Summary: Abnormally small jaw.

Top Publications

  1. Izadi K, Yellon R, Mandell D, Smith M, Song S, Bidic S, et al. Correction of upper airway obstruction in the newborn with internal mandibular distraction osteogenesis. J Craniofac Surg. 2003;14:493-9 pubmed
    ..This study suggests that for selected newborns, the use of internal microdistractors allows for avoidance of a tracheostomy and improved oral feeding...
  2. Sarnat H. Watershed infarcts in the fetal and neonatal brainstem. An aetiology of central hypoventilation, dysphagia, Möibius syndrome and micrognathia. Eur J Paediatr Neurol. 2004;8:71-87 pubmed
    ..Postmortem examination confirms the diagnosis and dates the lesions, but also contributes to better understand transient or persistent vascular insufficiencies in the fetal and neonatal brainstem...
  3. Chigurupati R, Myall R. Airway management in babies with micrognathia: the case against early distraction. J Oral Maxillofac Surg. 2005;63:1209-15 pubmed
  4. Cole A, Lynch P, Slator R. A new grading of Pierre Robin sequence. Cleft Palate Craniofac J. 2008;45:603-6 pubmed publisher
    ..A system of classifying babies with PRS based on the severity of their symptoms and signs and treatment required was therefore devised and is described in this paper...
  5. Iatrou I, Theologie Lygidakis N, Schoinohoriti O. "Mandibular distraction osteogenesis for severe airway obstruction in Robin Sequence. Case report". J Craniomaxillofac Surg. 2010;38:431-5 pubmed publisher
    ..No significant scarring occurred at the surgical site and the patient has normal respiratory and feeding function...
  6. Guernsey D, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, et al. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011;43:360-4 pubmed publisher
    ..This is the first report, to our knowledge, of a germline mutation in any gene of the origin recognition complex in a vertebrate organism...
  7. Bicknell L, Bongers E, Leitch A, Brown S, Schoots J, Harley M, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43:356-9 pubmed publisher
    ..All of these genes encode components of the pre-replication complex, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities...
  8. Bicknell L, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, et al. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011;43:350-5 pubmed publisher
    ..These findings establish a novel mechanism for the pathogenesis of microcephalic dwarfism and show a surprising but important developmental impact of impaired origin licensing...
  9. de Munnik S, Bicknell L, Aftimos S, Al Aama J, van Bever Y, Bober M, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012;20:598-606 pubmed publisher
    ..No other clear genotype-phenotype association was observed. Growth hormone and estrogen treatment may be of some benefit, respectively, to growth retardation and breast hypoplasia, though further studies in this patient group are needed...

More Information

Publications104 found, 100 shown here

  1. Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi Ko Y, et al. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012;44:376-8 pubmed publisher
    ..Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B...
  2. Santen G, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, et al. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet. 2012;44:379-80 pubmed publisher
  3. Al Kaissi A, Roetzer K, Ulz P, Heitzer E, Klaushofer K, Grill F. Extra phenotypic features in a girl with Miller syndrome. Clin Dysmorphol. 2011;20:66-72 pubmed publisher
    ..Interestingly, the father had a history of postaxial polydactyly. We speculated that the postaxial polydactyly in the father was either a heterozygote manifestation or is unrelated. ..
  4. Yen S, Gross J, Yamashita D, Kim T, McAndrews J, Shuler C, et al. Correcting an anterior open-bite side effect during distraction with spring forces. Plast Reconstr Surg. 2002;110:1476-84 pubmed
  5. Endo S, Mataki S, Kurosaki N. Cephalometric evaluation of craniofacial and upper airway structures in Japanese patients with obstructive sleep apnea. J Med Dent Sci. 2003;50:109-20 pubmed
    ..These findings proved that the morphological characteristics specific to Japanese patients with OSA and patients who were allowed to accept the OA therapy were exist. ..
  6. Gateno J, Engel E, Teichgraeber J, Yamaji K, Xia J. A new Le Fort I internal distraction device in the treatment of severe maxillary hypoplasia. J Oral Maxillofac Surg. 2005;63:148-54 pubmed
    ..This discrepancy was caused by a clockwise rotation of the maxilla during the distraction. Finally, the study showed a variable relapse rate not previously reported in maxillary distraction. ..
  7. Sadakah A, Elgazzar R, Abdelhady A. Intraoral distraction osteogenesis for the correction of facial deformities following temporomandibular joint ankylosis: a modified technique. Int J Oral Maxillofac Surg. 2006;35:399-406 pubmed
    ..7 mm was achieved (0.6 mm preoperatively) and no re-ankylosis was detected. Intraoral distraction of a deformed mandible and maxilla before releasing TMJ ankylosis is a feasible and perhaps advantageous technique. ..
  8. Sadakah A, Elshall M, Farhat A. Bilateral intra-oral distraction osteogenesis for the management of severe congenital mandibular hypoplasia in early childhood. J Craniomaxillofac Surg. 2009;37:216-24 pubmed publisher
    ..4) and the sleep apnoea symptoms had disappeared. The mean oxygen saturation increase was from 80% to 98% post-distraction. DO can consistently produce a measurable cross-section airway improvement in patients as young as 7 months. ..
  9. Yandell M, Huff C, Hu H, Singleton M, Moore B, Xing J, et al. A probabilistic disease-gene finder for personal genomes. Genome Res. 2011;21:1529-42 pubmed publisher
    ..Here we demonstrate its ability to identify damaged genes using small cohorts (n = 3) of unrelated individuals, wherein no two share the same deleterious variants, and for common, multigenic diseases using as few as 150 cases. ..
  10. Felemovicius J, Ortiz Monasterio F. Management of the impaired adult cleft patient: the last chance. Cleft Palate Craniofac J. 2004;41:550-8 pubmed
    ..An algorithm to help definitively solve these deformities is suggested. ..
  11. Iseri H, Malkoc S. Long-term skeletal effects of mandibular symphyseal distraction osteogenesis. An implant study. Eur J Orthod. 2005;27:512-7 pubmed
    ..The long-term findings of this study indicate that MSDO provides an efficient and stable non-extraction treatment alternative, mainly by increasing the anterior mandibular skeletal and dental arches. ..
  12. Meazzini M, Caprioglio A, Garattini G, Lenatti L, Poggio C. Hemandibular hypoplasia successfully treated with functional appliances: is it truly hemifacial microsomia?. Cleft Palate Craniofac J. 2008;45:50-6 pubmed publisher
  13. Arvidsson L, Fjeld M, Smith H, Flatø B, Ogaard B, Larheim T. Craniofacial growth disturbance is related to temporomandibular joint abnormality in patients with juvenile idiopathic arthritis, but normal facial profile was also found at the 27-year follow-up. Scand J Rheumatol. 2010;39:373-9 pubmed publisher
    ..Craniofacial growth disturbances were found to be frequent in adult JIA patients, especially in those with bilateral TMJ involvement. However, growth disturbances did not always follow TMJ involvement, not even when affected early. ..
  14. Tabor H, Stock J, Brazg T, McMillin M, Dent K, Yu J, et al. Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. Am J Med Genet A. 2012;158A:1310-9 pubmed publisher
    ..Web-based tools that facilitate participant management of their individual research results could accommodate such a framework. ..
  15. Chang X, Wang K. wANNOVAR: annotating genetic variants for personal genomes via the web. J Med Genet. 2012;49:433-6 pubmed publisher
    ..The wANNOVAR server is available at http://wannovar.usc.edu, and will be continuously updated to reflect the latest annotation information. ..
  16. Son E, Crabtree G. The role of BAF (mSWI/SNF) complexes in mammalian neural development. Am J Med Genet C Semin Med Genet. 2014;166C:333-49 pubmed publisher
    ..The high frequency of BAF subunit mutations in neurological disorders underscores the rate-determining role of BAF complexes in neural development, homeostasis, and plasticity. ..
  17. Lamont R, Loredo Osti J, Roslin N, Mauthe J, Coghlan G, Nylen E, et al. A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. Am J Med Genet A. 2005;132A:136-43 pubmed
    ..This study also demonstrates that BCS and cerebro-oculo-facial-skeletal syndrome (COFS) are genetically distinct. ..
  18. Iveli M, Morales S, Rebolledo A, Savietto V, Salemme S, Apezteguia M, et al. Effects of light ethanol consumption during pregnancy: increased frequency of minor anomalies in the newborn and altered contractility of umbilical cord artery. Pediatr Res. 2007;61:456-61 pubmed
    ..This difference persisted after inhibition of endothelial release of nitric oxide (NO) and prostacyclin. In conclusion, even light drinking should be considered a risk during pregnancy. ..
  19. Goyenc Y, Gurel H, Memili B. Craniofacial morphology in children with operated complete unilateral cleft lip and palate. J Craniofac Surg. 2008;19:1396-401 pubmed publisher
    ..Unilateral cleft lip and palate affects the intracranial morphology as well as dentofacial structures. ..
  20. Alió J, Lorenzo J, Iglesias M, Manso F, Ramírez E. Longitudinal maxillary growth in Down syndrome patients. Angle Orthod. 2011;81:253-9 pubmed publisher
    ..62 mm/year and 0.70 mm/year, measured at the level of the ANS and PNS, respectively. The maxilla in the DS group shows hypoplasia in the vertical plane and the sagittal plane, and there was a mean deficit of almost 10 mm in the latter. ..
  21. Lefebvre V, Bhattaram P. SOXC Genes and the Control of Skeletogenesis. Curr Osteoporos Rep. 2016;14:32-8 pubmed publisher
    ..We here review current knowledge and gaps in understanding of SOXC protein functions, with an emphasis on the skeleton and possible links to osteoporosis. ..
  22. Muzzin K, Harper L. Smith-Lemli-Opitz syndrome: a review, case report and dental implications. Spec Care Dentist. 2003;23:22-7 pubmed
    ..This article describes the clinical features and medical treatment of SLOS. A case report is included, with recommended guidelines for providing safe and comprehensive dental care for individuals with SLOS. ..
  23. Singh D, Bartlett S. Congenital mandibular hypoplasia: analysis and classification. J Craniofac Surg. 2005;16:291-300 pubmed
    ..Although mandibular hypoplasia is a common craniofacial anomaly, patients manifesting nonsyndromic congenital mandibular hypoplasia are a rare subgroup. Case reports illustrating the range of mandibular deformities are presented. ..
  24. Mahmood A, Sharif M, Malik I, Saeed S, Murtaza B. Pierre robin sequence as birth asphyxia in a new born. J Coll Physicians Surg Pak. 2008;18:581-3 pubmed publisher
    ..Prompt diagnosis and efficient airway management by following the principles of airway resuscitation can save the lives of such babies without specialized care. ..
  25. Ow A, Cheung L. Skeletal stability and complications of bilateral sagittal split osteotomies and mandibular distraction osteogenesis: an evidence-based review. J Oral Maxillofac Surg. 2009;67:2344-53 pubmed publisher
    ..BSSO has a higher incidence of persistent neurosensory disturbances and condylar resorption than MDO. Randomized controlled trials of these 2 techniques are still lacking. ..
  26. Mazzoleni G, Cicognini A, Rizzo R, Maranzano M, Paolin A, Sorato R. [Reconstruction of the TMJ and ramus in otomandibular dysplasia, by grafting of TMJ and homologous bone branch]. Rev Stomatol Chir Maxillofac. 2010;111:94-7 pubmed publisher
    ..An alternative to the suggested treatments consists in reconstructing the joint and the branch affected by hypoplasia by grafting in a homologous joint and bone branch. ..
  27. Wang X, Wang X, Liang C, Yi B, Lin Y, Li Z. Distraction osteogenesis in correction of micrognathia accompanying obstructive sleep apnea syndrome. Plast Reconstr Surg. 2003;112:1549-57; discussion 1558-9 pubmed
    ..It is presently the most effective method for the treatment of this difficult and complicated disorder. ..
  28. Dzhorov A. [Surgical methods for reconstruction of the temporomandibular joint and lower jaw in ankylosis and micrognathism]. Khirurgiia (Sofiia). 2004;60:34-9 pubmed
    ..Using the literature we try to represent the most useful techniques for reconstruction of the TMJ and the lower jaw in case of ankylosis and micrognathia We hope to optimize the treatment and to make the life of these patients better. ..
  29. Brooks J, Ahmad R. Oral anomalies associated with the oculocerebrorenal syndrome of Lowe: case report with multiple unerupted teeth and pericoronal radiolucencies. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;107:e32-5 pubmed publisher
    ..The oral radiographic examination was significant for multiple impacted permanent teeth, many with pericoronal radiolucencies, and an underdeveloped mandible. ..
  30. Kaufman M, Cassady C, Hyman C, Lee W, Watcha M, Hippard H, et al. Prenatal Identification of Pierre Robin Sequence: A Review of the Literature and Look towards the Future. Fetal Diagn Ther. 2016;39:81-9 pubmed publisher
    ..We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally. ..
  31. Batstone M, Macleod A. Oral and maxillofacial surgical considerations for a case of Hutchinson-Gilford progeria. Int J Paediatr Dent. 2002;12:429-32 pubmed
    ..These factors mandate early and definitive intervention for oral surgical conditions. We report the case of a 13-year-old male treated for pericoronitis and oral pain relating to delayed eruption of first permanent molars. ..
  32. Höglund P, Jalkanen R, Marttinen E, Alitalo T. Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations. Am J Med Genet A. 2003;123A:290-5 pubmed
    ..Distinct from all these patients, the clinical picture of our patient is markedly milder, i.e., without growth retardation, microcephaly, or clear mental retardation. ..
  33. Koudstaal M, van der Wal K, Wolvius E. Experience with the transpalatal distractor in congenital deformities. Mund Kiefer Gesichtschir. 2006;10:331-4 pubmed
    ..In our group of ten patients with congenital deformities a 60% complication rate was observed. The transpalatal distractor seems not to be the ideal device for use in widening the maxilla in cases with congenital deformities. ..
  34. Taub P, Lin H, Silver L. Mandibular distraction for amniotic band syndrome in the neonate. Ann Plast Surg. 2007;59:334-7 pubmed
    ..This report highlights the successful utilization of DO for the treatment of mandibular hypoplasia and airway compromise in a patient with ABS. ..
  35. Su P, Yu J, Chen J, Chen S, Li S, Chen H. Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome. Clin Dysmorphol. 2007;16:261-7 pubmed
    ..These observations strongly suggest that the TCOF1 genetic changes observed in these five patients might be related to oculo-auriculo-vertebral spectrum symptoms. ..
  36. Ho N, Punturieri A, Wilkin D, Szabo J, Johnson M, Whaley J, et al. Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. J Bone Miner Res. 1999;14:1649-53 pubmed
    ..The protein studies demonstrate that even significantly reduced cathepsin K levels do not have any phenotypic effect, whereas absent cathepsin K results in pycnodysostosis. ..
  37. Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T. Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. Am J Med Genet A. 2005;137:72-6 pubmed
    ..The results, in conjunction with those reported by Flanagan et al. [2002], suggest that a cis-acting enhancer exists in the SHOX 3' region around DXYS233. ..
  38. Tchirikov M, Merinsky A, Strohner M, Bonin M, Beyer V, Haaf T, et al. Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter. Am J Med Genet A. 2010;152A:721-5 pubmed publisher
    ..Invasive prenatal diagnosis must be offered to the parents. ..
  39. Schoemann M, Burstein F, Bakthavachalam S, Williams J. Immediate mandibular distraction in mandibular hypoplasia and upper airway obstruction. J Craniofac Surg. 2012;23:1981-4 pubmed publisher
    ..Immediate distraction appears to be an effective method of avoiding postoperative intubation and tracheostomy. ..
  40. Perkins R, Hoang Xuan M. The Russell-Silver syndrome: a case report and brief review of the literature. Pediatr Dermatol. 2002;19:546-9 pubmed
    ..We present the first instances of a large, unilateral, achromic patch as an additional cutaneous manifestation of the Russell-Silver syndrome. ..
  41. Suri S, Ross R, Tompson B. Mandibular morphology and growth with and without hypodontia in subjects with Pierre Robin sequence. Am J Orthod Dentofacial Orthop. 2006;130:37-46 pubmed
    ..Their patterns of growth did not improve during adolescence, and the magnitude of differences increased. ..
  42. Tóth B, Vizkelety T, Kertész E, Gyenes V. [Distractios osteogenesis in maxillofacial surgery]. Fogorv Sz. 2006;99:213-9 pubmed
    ..They also emphasized the difficulties and failure opportunities. Their aim was to make suggestions for the further development of this method in our country...
  43. Harsha Vardhan B, Muthu M, Saraswathi K, Koteeswaran D. Bird-headed dwarf of Seckel. J Indian Soc Pedod Prev Dent. 2007;25 Suppl:S8-9 pubmed
    ..Other facial features may include abnormally large eyes, a narrow face, malformed ears and an unusually small jaw. This syndrome has an autosomal recessive pattern of inheritance. A case of the Seckel syndrome is presented...
  44. Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, et al. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet. 2012;21:3969-83 pubmed publisher
    ..The developmental sensitivity to reduced pyrimidine synthesis capacity may reflect the requirement for an exceptional mitogenic response to growth factor signalling in the affected tissues. ..
  45. Steinbacher D, Kaban L, Troulis M. Mandibular advancement by distraction osteogenesis for tracheostomy-dependent children with severe micrognathia. J Oral Maxillofac Surg. 2005;63:1072-9 pubmed
    ..The purpose of this study was to evaluate mandibular lengthening by distraction osteogenesis (DO) to achieve decannulation of micrognathic children with "permanent" tracheostomies...
  46. Crawford M, Rohan D. The upper airway in Weaver syndrome. Paediatr Anaesth. 2005;15:893-6 pubmed
  47. Tuysuz B, Goldin E, Metin B, Korkmaz B, Yalcinkaya C. Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation. Brain Dev. 2009;31:702-5 pubmed publisher
    ..Serine 456 is conserved in mucolipin proteins throughout evolution, therefore the mutation is considered as causative for the severe phenotype of this patient...
  48. Vinay C, Reddy R, Uloopi K, Madhuri V, Sekhar R. Craniofacial features in Goldenhar syndrome. J Indian Soc Pedod Prev Dent. 2009;27:121-4 pubmed publisher
    ..The etiology of this disease still remains unclear and occurs as sporadic. This report presents goldenhar syndrome in a 12-year-old male patient...
  49. Sati S, Havlik R. An evidence-based approach to genioplasty. Plast Reconstr Surg. 2011;127:898-904 pubmed publisher
    ..This article is not intended to be an exhaustive treatise on the subject. Rather, it is designed to serve as a reference point for further in-depth study by review of the reference articles presented...
  50. Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, et al. Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. PLoS Genet. 2012;8:e1002945 pubmed publisher
    ..Collectively, our analysis exposes an overlapping clinical manifestation between the disorders but allows an expanded spectrum of clinical features for ATR-ATRIP Seckel Syndrome to be defined...
  51. Nadjmi N. [Predictability of maxillary distraction with the trans-sinusoidal distractor]. Rev Stomatol Chir Maxillofac. 2004;105:9-12 pubmed
    ..This work was conducted to evaluate a new maxillary distractor with an activating system introduced into the maxilary sinus...
  52. Akbas H, Karacaoglan N, Eroglu L, Uysal A, Incesu L, Kandemir B. Radiologic and histological evaluation of otogenic sliced cartilage grafts at the tip of the chin of rabbits: an experimental study. Otolaryngol Head Neck Surg. 2004;130:453-8 pubmed
    ..The use of autologous cartilage is ideal for many reasons. An attempt was made to produce an experimental animal model to test the efficacy of otogenic Surgicel-wrapped sliced cartilage...
  53. Gil da Silva Lopes V, Luquetti D. Congenital temporomandibular joint ankylosis: clinical characterization and natural history of four unrelated affected individuals. Cleft Palate Craniofac J. 2005;42:694-8 pubmed
    ..Clinical delineation, natural history, and possible etiologies are discussed. Clinical aspects that are important for follow-up are outlined...
  54. Anantanarayanan P, Narayanan V, Manikandhan R, Kumar D. Primary mandibular distraction for management of nocturnal desaturations secondary to temporomandibular joint (TMJ) ankylosis. Int J Pediatr Otorhinolaryngol. 2008;72:385-9 pubmed publisher
    ..The purpose of this study is to evaluate the role of primary osteo-distraction prior to ankylosis release in pediatric patients, diagnosed with NDS secondary to temporomandibular joint (TMJ) ankylosis...
  55. Hammoudeh J, Kleiber G, Nazarian Mobin S, Urata M. Bilateral complex odontomas: a rare complication of external mandibular distraction in the neonate. J Craniofac Surg. 2009;20:973-6 pubmed publisher
    ..The authors present an unusual complication of external mandibular distraction in a child with bilateral complex odontomas in the posterior mandible...
  56. Cadogan J, Bennun I. Face value: an exploration of the psychological impact of orthognathic surgery. Br J Oral Maxillofac Surg. 2011;49:376-80 pubmed publisher
  57. Hong P, Bezuhly M. Mandibular distraction osteogenesis in the micrognathic neonate: a review for neonatologists and pediatricians. Pediatr neonatol. 2013;54:153-60 pubmed publisher
    ..Neonatologists and pediatricians commonly care for these children, and therefore an up-to-date clinical narrative review regarding MDO is presented to increase the awareness of this relatively new surgical option...
  58. Sakugawa Y, Kamizato K, Miyata Y, Kakinohana M, Sugahara K. [Case report : usefulness of the airwayscope for difficult intubations in a pediatric patients with Coffin-Siris syndrome]. Masui. 2013;62:589-91 pubmed
    ..Surgical procedures and anes-thetic management were performed uneventfully. This case demonstrates usefulness of AWS in pediatric patients with difficult intubation...
  59. Wangsrimongkol T, Manosudprasit M, Pisek P, Leelasinjaroen P. Correction of complete maxillary crossbite with severe crowding using Hyrax expansion and fixed appliance. J Med Assoc Thai. 2013;96 Suppl 4:S149-56 pubmed
    ..Both acceptable skeletal and soft tissue relationships and satisfactory occlusion were produced. After 14 months of postoperative follow-up, the occlusal result was stable and no skeletal reversals could be detected...
  60. Sanchez J, Kwan E, Pohl T, Amemiya H, Raghuraman M, Brewer B. Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast. PLoS Genet. 2017;13:e1007041 pubmed publisher
    ..This finding provides additional evidence linking two essential cellular pathways-DNA replication and ribosome biogenesis. ..
  61. Rizzo R, Contri M, Micali G, Quaglino D, Pavone L, Ronchetti I. Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen. Pediatr Dermatol. 1987;4:197-204 pubmed
    ..In both patients the dermal elastic network was well developed and elastic fibers appeared normal...
  62. Bacha F, Hoo J. New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay. Am J Med Genet. 2001;101:70-3 pubmed
    ..Their clinical appearance suggests a premature aging phenotype, but is not really compatible with the hitherto known syndromes of that group. The mode of inheritance is likely autosomal recessive...
  63. Margulis A, Patel P, Daw J, Bauer B. Distraction osteogenesis of the mandible with an internal bioresorbable device. J Craniofac Surg. 2003;14:791-6 pubmed
    ..The complications included device failure in one patient. The advantage of this method compared with the internal metal device is that it does not necessitate an additional procedure for device removal...
  64. Mackool R, Shetye P, Grayson B, McCarthy J. Distraction osteogenesis in a patient with juvenile arthritis. J Craniofac Surg. 2006;17:387-90 pubmed
    ..After distraction, the patient's sleep apnea resolved. There was slight improvement in her maximal incisal opening (12 mm) with neither exacerbation nor improvement of her temporomandibular joint symptomatology...
  65. Kotzot D. Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups. Eur J Med Genet. 2008;51:444-51 pubmed publisher
    ..Therefore, both loss of methylation of the ICR1 on 11p15 and maternal UPD 7 should be investigated for if SRS is suspected...
  66. Costello B, Edwards S, Clemens M. Fetal diagnosis and treatment of craniomaxillofacial anomalies. J Oral Maxillofac Surg. 2008;66:1985-95 pubmed publisher
    ..We describe our recent experience and some of the more common abnormalities with their management considerations that may be encountered by the oral and maxillofacial surgeon on the fetal diagnosis and treatment team...
  67. Molina F. Mandibular distraction osteogenesis: a clinical experience of the last 17 years. J Craniofac Surg. 2009;20 Suppl 2:1794-800 pubmed publisher
    ..With this clinical experience in the mandible using distraction osteogenesis, we confirm the farewell to major osteotomies to treat a wide range of deformities of this sophisticate anatomic structure...
  68. Kelley P, Mata C, Da Silveira A. Chronic temporomandibular joint dislocation by mandibular distraction in a patient with Melnick-needles syndrome. J Craniofac Surg. 2010;21:174-6 pubmed publisher
    ..The patient experienced complete resolution of symptoms and resumed an unrestricted diet 6 months after removal of devices and has been pain-free for more than 24 months...
  69. Garrocho Rangel J, Bueno Rubio G, Martínez Sandoval B, Ruiz Rodríguez M, Santos Díaz M, Pozos Guillen A. Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome. J Clin Pediatr Dent. 2012;37:203-6 pubmed
    ..The pediatric dentist should possess the ability to recognize this rare alteration, to provide dental treatment and to refer for the necessary medical and multidisciplinary treatment...
  70. Rotten D, Levaillant J, Martinez H, Ducou Le Pointe H, Vicaut E. The fetal mandible: a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia. Ultrasound Obstet Gynecol. 2002;19:122-30 pubmed
    ..To define parameters that enable the objective diagnosis of anomalies of the position and/or size of the fetal mandible in utero...
  71. Takahashi K, Kuwahara T, Tanigawara T, Hattori T, Masuno M, Kondo N. Frontometaphyseal dysplasia: patient with ruptured aneurysm of the aortic sinus of Valsalva and cerebral aneurysms. Am J Med Genet. 2002;108:249-51 pubmed
  72. Linsen S, Niederhagen B, Braumann B, Koeck B. Functional and esthetic rehabilitation after mandibular resection in a child using a tooth/implant-supported distraction device: a case report. Int J Oral Maxillofac Implants. 2004;19:603-8 pubmed
  73. Koudstaal M, Poort L, van der Wal K, Wolvius E, Prahl Andersen B, Schulten A. Surgically assisted rapid maxillary expansion (SARME): a review of the literature. Int J Oral Maxillofac Surg. 2005;34:709-14 pubmed
    ..A proposal for a prospective randomized patient study in order to find answers to the lacunas in knowledge regarding this treatment is done...
  74. Ounap K, Ilus T, Laidre P, Uibo O, Tammur P, Bartsch O. A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21. Am J Med Genet A. 2005;137A:323-7 pubmed
    ..2) and D2S2023 (chromosome 2q14.2), or alternatively the presence of a locus for CPO and Pierre Robin sequence on chromosome 2q13-q21...
  75. Liang C, Wang X, Yi B, Li Z, Wang X. [Clinical study of simultaneous correction of unilateral temporomandibular joint ankylosis and mandibular micrognathia with internal distraction osteogenesis]. Beijing Da Xue Xue Bao Yi Xue Ban. 2007;39:33-6 pubmed
    ..To observe the clinical results in correction of unilateral temporomandibular joint(TMJ) ankylosis accompanying with mandibular micrognathia using internal distraction osteogenesis simultaneously...
  76. Miller J, Kahn D, Lorenz H, Schendel S. Infant mandibular distraction with an internal curvilinear device. J Craniofac Surg. 2007;18:1403-7 pubmed
    ..Mandibular distraction with an internal curvilinear device is effective at relieving airway obstruction in micrognathic infants, while avoiding some previously reported complications...
  77. Tonkin S, Vogel S, Gunn A. Upper airway size while sucking on a pacifier in an infant with micrognathia. J Paediatr Child Health. 2008;44:78-9 pubmed
    ..This observation is consistent with the hypothesis that the well-documented association between the pacifier use and reduced risk of sudden infant death syndrome may be at least in part related to changes in airway size...
  78. Guadagni M, Cetrullo N, Piana G. Cornelia de Lange syndrome: description of the orofacial features and case report. Eur J Paediatr Dent. 2008;9:9-13 pubmed
    ..The authors describe the main features of the syndrome focusing on oral and facial malformations and report a case of a three years old patient with CdLS...
  79. Katz E, Mitchell R, D Ambrosio C. Obstructive sleep apnea in infants. Am J Respir Crit Care Med. 2012;185:805-16 pubmed publisher
  80. Taub P, Wolfeld M, Cohen Pfeffer J, Mehta L. Mandibular distraction in the setting of chromosome 4q deletion. J Plast Reconstr Aesthet Surg. 2012;65:e95-8 pubmed publisher
    ..They report the successful use of distraction osteogenesis to address the associated micrognathia and tongue displacement and avoid long-term tracheostomy...
  81. Al Qattan M, Abou Al Shaar H. A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome. Saudi Med J. 2015;36:980-2 pubmed publisher
    ..Previously reported cases of the Holt-Oram syndrome caused by missense mutations were reviewed and their phenotypes were compared with the phenotype of our patient. ..
  82. Diner P. [Bone distraction and conventional procedures in maxillofacial surgery]. Rev Stomatol Chir Maxillofac. 2004;105:4-5 pubmed
  83. Satoh K, Nagata J, Shomura K, Wada T, Tachimura T, Fukuda J, et al. Morphological evaluation of changes in velopharyngeal function following maxillary distraction in patients with repaired cleft palate during mixed dentition. Cleft Palate Craniofac J. 2004;41:355-63 pubmed
    ..To describe the morphological changes of nasopharyngeal components after maxillary distraction and clarify whether the morphological characteristics are related to velopharyngeal function (VPF)...
  84. Gleizal A, Revol P, Bouletreau P, Sailhan F, Freidel M, Breton P. [Growth defects of fibular flaps in children]. Rev Stomatol Chir Maxillofac. 2005;106:352-5 pubmed
    ..Mandibular reconstruction with fibula free flap is a challenge in pediatric patients because of the size of the bone and absence of growth without epiphyseal transplantation...
  85. Martinet D, Vial Y, Thonney F, Beckmann J, Meagher Villemure K, Unger S. Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity. Am J Med Genet A. 2006;140:769-74 pubmed
    ..However, there is no evidence to suggest that chromosome 17 is imprinted and UPD 20 was excluded thus making an imprinting error unlikely...
  86. Mueller D, Callanan V. Congenital malformations of the oral cavity. Otolaryngol Clin North Am. 2007;40:141-60, vii pubmed
    ..An attempt is made to point out where these malformations deviate from normal development. Finally, management recommendations are based on traditional methods and recent advances described in the literature...
  87. Borenstein M, Persico N, Strobl I, Sonek J, Nicolaides K. Frontomaxillary and mandibulomaxillary facial angles at 11 + 0 to 13 + 6 weeks in fetuses with trisomy 18. Ultrasound Obstet Gynecol. 2007;30:928-33 pubmed
    ..To define the relative position of the maxilla and mandible in fetuses with trisomy 18 at 11 + 0 to 13 + 6 weeks of gestation...
  88. Colvenkar S. Sectional impression tray and sectional denture for a microstomia patient. J Prosthodont. 2010;19:161-5 pubmed publisher
    ..A sectional denture that provides ease in placement and removal can be successfully used in clinical practice for treatment of microstomia patients...
  89. Nagasawa H, Yamamoto Y, Kohno Y. Cerebro-costo-mandibular syndrome: prognosis and proposal for classification. Congenit Anom (Kyoto). 2010;50:171-4 pubmed publisher
    ..CCMS can be classified into three categories--lethal, severe, and mild--according to the severity of the symptoms and prognosis...
  90. Morokuma S, Anami A, Tsukimori K, Fukushima K, Wake N. Abnormal fetal movements, micrognathia and pulmonary hypoplasia: a case report. Abnormal fetal movements. BMC Pregnancy Childbirth. 2010;10:46 pubmed publisher
    ..In this paper we report the case of a preterm infant with micrognathia and pulmonary hypoplasia who presented abnormal fetal movements...
  91. Shang H, Xue Y, Liu Y, Zhao J, He L. Modified internal mandibular distraction osteogenesis in the treatment of micrognathia secondary to temporomandibular joint ankylosis: 4-year follow-up of a case. J Craniomaxillofac Surg. 2012;40:373-8 pubmed publisher
    ..Through the 4-year follow-up, no signs of reankylosis were found. In conclusion, this new clinical protocol is a safe, effective and quick way to treat micrognathia and OSAS secondary to TMJa...
  92. Pluijmers B, Koudstaal M, Wolvius E, van der Wal K. Custom-made intraoral mandibular distraction as treatment for neonatal airway obstruction. Int J Oral Maxillofac Surg. 2012;41:186-91 pubmed publisher