hypertelorism

Summary

Summary: Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.

Top Publications

  1. Al Kaissi A, Klaushofer K, Safi H, Chehida F, Ghachem M, Chaabounni M, et al. Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?. Am J Med Genet A. 2007;143:349-54 pubmed
    ..OSA syndrome, and Mingarelli syndrome share the combination of symptoms of highly arched eyebrows, ptosis, and hypertelorism, and vary in other symptoms such as asymmetry of the skull, eyelid, and anterior chamber anomalies, clefting ..
  2. Lubs H, Abidi F, Bier J, Abuelo D, Ouzts L, Voeller K, et al. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. Am J Med Genet. 1999;85:243-8 pubmed
    ..All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT...
  3. Johnston J, Olivos Glander I, Killoran C, Elson E, Turner J, Peters K, et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005;76:609-22 pubmed
    ..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
  4. Slavotinek A, Baranzini S, Schanze D, Labelle Dumais C, Short K, Chao R, et al. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011;48:375-82 pubmed publisher
    ..Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports of affected siblings, but no locus or cytogenetic aberration had previously been described...
  5. Mönnich M, Kuriger Z, Print C, Horsfield J. A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. PLoS ONE. 2011;6:e20051 pubmed publisher
    ..Our results show that mutations in different elements of the cohesion apparatus have distinct developmental outcomes, and provide insight into why CdLS and RBS are distinct diseases...
  6. Bose T, Lee K, Lu S, Xu B, Harris B, Slaughter B, et al. Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells. PLoS Genet. 2012;8:e1002749 pubmed publisher
    ..Reduced translational capacity could contribute to the human cohesinopathies...
  7. Gerton J. Translational mechanisms at work in the cohesinopathies. Nucleus. 2012;3:520-5 pubmed publisher
    ..By considering this possibility we can more fully evaluate causes and treatments for the cohesinopathies...
  8. Evereklioglu C, Doganay S, Er H, Tercan M, Gunduz A, Balat A, et al. Interpupillary index: a new parameter for hypo-hypertelorism. J Craniomaxillofac Surg. 2001;29:191-4 pubmed
    To establish a new clinical index to evaluate the presence of hypo-hypertelorism with greater accuracy.
  9. Johnston J, Olivos Glander I, Turner J, Aleck K, Bird L, Mehta L, et al. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A. 2003;123A:236-42 pubmed
    ..Features of GCPS include polydactyly, macrocephaly, and hypertelorism, and may be associated with cognitive deficits and abnormalities of the corpus callosum...

More Information

Publications101 found, 100 shown here

  1. Parmar R, Muranjan M. A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly. Am J Med Genet A. 2004;124A:200-1 pubmed
    ..We report a 21-year-old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, and broad nose with broad nasal tip, highly arched palate, and bilateral ..
  2. Twigg S, Kan R, Babbs C, Bochukova E, Robertson S, Wall S, et al. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A. 2004;101:8652-7 pubmed
    ..Females have frontonasal dysplasia and coronal craniosynostosis (fusion of the coronal sutures); in males, hypertelorism is the only typical manifestation...
  3. Li C, Marles S, Greenberg C, Chodirker B, van de Kamp J, Slavotinek A, et al. Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Am J Med Genet A. 2007;143A:853-7 pubmed
    ..The most consistent features appear to be hypertelorism and a broad or notched tip of the nose...
  4. Deardorff M, Wilde J, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, et al. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet. 2012;90:1014-27 pubmed publisher
    ..These results underscore the essential role of RAD21 in eukaryotes and emphasize the need for further understanding of the role of cohesin in human development...
  5. Baruch A, Erickson R. Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8). Am J Med Genet. 2001;100:187-90 pubmed
    ..1-->6pter and trisomic for 8q24.23-->8qter. The siblings both possess Axenfeld-Rieger Anomaly (ARA), hypertelorism, clinodactyly, and cardiac anomalies, but otherwise vary in the phenotypic manifestations of this unbalanced ..
  6. Agrawal A, Rao K, Krishnamoorthy B, Shetty R, Anand M, Jain H. Single stage craniofacial reconstruction for fronto-nasal encephalocele and hypertelorism in an adult. Singapore Med J. 2007;48:e215-9 pubmed
    ..e. correction of bone defect with autologus split calvarial graft, dural closure with autologous pericranial graft and correction of hypertelorism.
  7. Babbs C, Stewart H, Williams L, Connell L, Goriely A, Twigg S, et al. Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice. Hum Mutat. 2011;32:930-8 pubmed publisher
    Familial hypertelorism, characterized by widely spaced eyes, classically shows autosomal dominant inheritance (Teebi type), but some pedigrees are compatible with X-linkage...
  8. Sheehy E, Soneji B, Longhurst P. The dental management of a child with LEOPARD syndrome. Int J Paediatr Dent. 2000;10:158-60 pubmed
    ..This report describes the dental management of a child with LEOPARD syndrome who presented with multiple grossly carious primary teeth. Comprehensive dental care was carried out under general anaesthesia. ..
  9. Lu T, Chen R, Cox T, Moldrich R, Kurniawan N, Tan G, et al. X-linked microtubule-associated protein, Mid1, regulates axon development. Proc Natl Acad Sci U S A. 2013;110:19131-6 pubmed publisher
    ..Together, these data demonstrate that Mid1-dependent PP2Ac turnover is important for normal axonal development and that dysregulation of this process may contribute to the underlying cause of OS. ..
  10. Holmes A, Meara J, Kolker A, Rosenfeld J, Klug G. Frontoethmoidal encephaloceles: reconstruction and refinements. J Craniofac Surg. 2001;12:6-18 pubmed
    ..shown to depend on the following: a detailed understanding of the pathological anatomy (such as interorbital hypertelorism rather than true orbital hypertelorism and the presence of secondary trigonocephaly), careful planning of the ..
  11. Meester J, Vandeweyer G, Pintelon I, Lammens M, Van Hoorick L, De Belder S, et al. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. Genet Med. 2017;19:386-395 pubmed publisher
    ..Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia...
  12. Kariminejad A, Ajeawung N, Bozorgmehr B, Dionne Laporte A, Molidperee S, Najafi K, et al. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017;62:465-471 pubmed publisher
    ..We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and ..
  13. Julia S, Pedespan J, Boudard P, Barbier R, Gavilan Cellié I, Chateil J, et al. Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome. Am J Med Genet. 2002;110:179-81 pubmed
    ..We report a 3-year-old girl whose symptoms are compatible with this diagnosis. Therefore, we suggest confirmation of the description by Rasmussen et al. as a distinct entity and suggest the term Rasmussen syndrome for this condition. ..
  14. Cole P, Kaufman Y, Hollier L. Bifid nose with cleft hand deformity: syndromic association or undescribed anomaly?. J Craniofac Surg. 2008;19:1594-6 pubmed publisher
    ..Here, we present a 4-month-old female infant with a coincident bifid nose and central ray deficiency...
  15. Bouzas E, Karadimas P, Kanaka Gantenbein C, Papastathopoulos C, Dimitrakos S, Mastorakos G. Ophthalmologic findings in cerebrofaciothoracic dysplasia. J Pediatr Ophthalmol Strabismus. 2005;42:47-51 pubmed
    ..Both affected individuals are members of the same family and have epicanthal folds and hypertelorism. In addition, one patient has bilateral bull's eye maculopathy, which may represent an additional severe ..
  16. Mazzeu J, Pardono E, Vianna Morgante A, Richieri Costa A, Ae Kim C, Brunoni D, et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A. 2007;143:320-5 pubmed
    ..of patients with either form, and therefore the most important for the characterization of this syndrome were hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic ..
  17. Hu C, Liu Y, Yu J, Ng Y, Chen S, Su P, et al. A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain. Am J Med Genet A. 2012;158A:726-31 pubmed publisher
    ..in X-linked Opitz G/BBB syndrome (OS), a disorder that affects development of midline structures and comprises hypertelorism, cleft lip/palate, hypospadias, and laryngo-tracheo-esophageal abnormalities, and, at times, neurological, ..
  18. Ghosh S, Majumdar B, Rudra O, Chakraborty S. LEOPARD Syndrome. Dermatol Online J. 2015;21: pubmed
    ..for its cardinal clinical features including Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness...
  19. Farrow E, Nicot R, Wiss A, Laborde A, Ferri J. Cleidocranial Dysplasia: A Review of Clinical, Radiological, Genetic Implications and a Guidelines Proposal. J Craniofac Surg. 2017;: pubmed publisher
    ..features of CCD that stand out are a patency of the anterior fontanelle, an inverted pear-shaped calvaria, a hypertelorism, a general midface retrusion, and a mandible prognathism, associated with an excessive mobility of the ..
  20. Gable E, Brandonisio T. Ocular manifestations of Donohue's syndrome. Optom Vis Sci. 2003;80:339-43 pubmed
    ..These ocular sequelae are discussed with regard to the noted endocrine dysfunction and its effects on tissue development and growth. ..
  21. Giffoni S, Goncalves V, Zanardi V, Lopes V. Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia. Arq Neuropsiquiatr. 2004;62:195-8 pubmed
    ..Thus, angular anomaly in corpus callosum would be a usual finding, and not fortuitous in patients with FD. ..
  22. Milani D, Bonarrigo F, Avignone S, Triulzi F, Esposito S. 48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome. Ital J Pediatr. 2015;41:50 pubmed publisher
    ..characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis, and with mild hypertelorism, inverted nipples, a congenital hip dysplasia, and some neuroradiological features so far not described...
  23. Gurrieri F, Tiziano F, Zampino G, Neri G. Recognizable facial features in patients with alternating hemiplegia of childhood. Am J Med Genet A. 2016;170:2698-705 pubmed publisher
    ..patients shared a similar physical phenotype consisting of hypotonia, long face, thin eyebrows, strabismus, hypertelorism, long palpebral fissures, downturned mouth, and slender habitus...
  24. Tormey P, Bilic Cace I, Boyle M. Ocular dermoid in Pai Syndrome: A review. Eur J Med Genet. 2017;60:217-219 pubmed publisher
    Pai Syndrome is a rare congenital malformation syndrome of unknown cause with hypertelorism, midline cleft lip, nasal and facial polyps, ocular anomalies and the presence of distinctive lipomas adjacent to the corpus callosum...
  25. Evereklioglu C, Yakinci C, Er H, Doganay S, Durmaz Y. Normative values of craniofacial measurements in idiopathic benign macrocephalic children. Cleft Palate Craniofac J. 2001;38:260-3 pubmed
    ..identification of some craniofacial syndromes, congenital or posttraumatic telecanthus, epicanthus, and hypo-hypertelorism and of planning surgical intervention...
  26. De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, RodrIguez Criado G, et al. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A. 2003;120A:222-8 pubmed
    Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X-linked (XLOS) and an autosomal dominant (ADOS) form...
  27. Santoro G, Caianiello G, Rossi G, Farina G, Russo M, Calabro R. Hybrid transcatheter-surgical strategy in arterial tortuosity syndrome. Ann Thorac Surg. 2008;86:1682-4 pubmed publisher
    ..This approach resulted in right ventricular overload relief and sudden improvement of the patient's clinical condition. ..
  28. Roosenboom J, Saey I, Peeters H, Devriendt K, Claes P, Hens G. Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate. Biomed Res Int. 2015;2015:863429 pubmed publisher
    ..Nonaffected relatives showed midface retrusion, hypertelorism, and olfactory dysfunction, compared to controls...
  29. Przybylska Kruszewska A, Kutkowska Kazmierczak A, Krzywdzińska A, Smyk M, Nowakowska B, Gryglicka H, et al. [17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome]. Pol Merkur Lekarski. 2016;40:255-9 pubmed
    ..in relation to age, hypotonia, dysmorphic facial features (high and prominent forehead, low-set ears, hypertelorism, short nose, small upturned nose, narrow lips and pointed chin) and discrete changes in the CNS - enhanced ..
  30. Rudolph G, Haritoglou C, Kalpadakis P, Boergen K, Meitinger T. [LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)]. Ophthalmologe. 2001;98:1101-3 pubmed
    ..severe lentiginosis associated with various abnormalities such as electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness...
  31. Kamata S, Ihara Y, Usui N, Kamiyama M, Soh H, Fukuzawa M. Surgical management for posterior laryngeal cleft developing subglottic airway obstruction. J Pediatr Surg. 2005;40:E15-6 pubmed
    ..Anterior laryngotracheoplasty and Nissen fundoplication should be considered for this complication, in addition to the usual procedure for cleft repair. ..
  32. Thiel C, Dörr H, Trautmann U, Hoyer J, Hofmann K, Kraus C, et al. A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay. Eur J Med Genet. 2008;51:362-7 pubmed publisher
    ..primordial short stature, mild developmental delay, and distinct facial dysmorphism with high forehead, mild hypertelorism, broad nasal bridge, dysplastic ear helices, short philtrum, thin and "cupid bow" upper lip, broad ..
  33. Simioni M, Freitas E, Vieira T, Lopes Cendes I, Gil da Silva Lopes V. Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism. J Appl Genet. 2010;51:219-21 pubmed publisher
    Midline facial defects with hypertelorism (MFDH) are mainly characterized by ocular hypertelorism and bifid nose...
  34. Wan D, Levi B, Kawamoto H, Tanna N, Tabit C, do Amaral C, et al. Correction of hypertelorbitism: evaluation of relapse on long-term follow-up. J Craniofac Surg. 2012;23:113-7 pubmed publisher
    ..3 versus 3.1). Relapse after surgery for hypertelorbitism is related to the age of the patient at correction and the preoperative severity. When possible, surgical repositioning of the orbits should be delayed until later childhood. ..
  35. Rodrigues M, Morgade L, Dias L, Moreira R, Maia P, Sales A, et al. CASE-REPORT Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly. Genet Mol Res. 2016;15: pubmed publisher
    ..and normal activity, followed by phenotypic changes such as a broader forehead, formation of a cleft palate, hypertelorism, low-set ears, bilateral cryptorchidism, absence of the second toe of the left foot (ectrodactyly), and fusion ..
  36. Dossani R, Yates D, Kalakoti P, Nanda A, Notarianni C, Woerner J, et al. Cranium Bifidum Occultum Associated with Hypertelorism Treated with Posterior Vault Reconstruction and Orbital Box Osteotomies: Case Report and Technical Note. World Neurosurg. 2017;107:40-46 pubmed publisher
    ..posterior cranial vault defect consistent with diagnosis of cranium bifidum occultum associated with orbital hypertelorism and a widened nose...
  37. Pierson D, Taboada E, Lofland G, Begleiter M, Smith G, Hall F, et al. Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father. Clin Dysmorphol. 2001;10:95-9 pubmed
    ..parents with total anomalous pulmonary venous connection (TAPVC) and additional findings of malformed ears, hypertelorism, brachyphalangy in the hands, pterygium of the elbows, knees, and wrists, complex lower limb pre-axial ..
  38. Sleurs E, Goncalves L, Johnson A, Espinoza J, Devers P, Chaiworapongsa T, et al. First-trimester three-dimensional ultrasonographic findings in a fetus with frontonasal malformation. J Matern Fetal Neonatal Med. 2004;16:187-97 pubmed
    ..three-dimensional ultrasound images revealed absence of the nasal bridge, widely spaced frontal bones and hypertelorism. Fetoscopy, performed at 12 3/7 weeks, confirmed the hypertelorism and showed a broad translucent nose with a ..
  39. Mariño Enríquez A, Lapunzina P, Omeñaca F, Morales C, Rodriguez J. Laurin-Sandrow syndrome: review and redefinition. Am J Med Genet A. 2008;146A:2557-65 pubmed publisher
    We report on a newborn infant with characteristics of Laurin-Sandrow syndrome (LSS). She had hypertelorism, flat nose with grooved collumella, "V" shaped mouth with thin lips, 7 well-recognized and fused digits and 1 additional ..
  40. Whelan G, Kreidl E, Peters J, Eichele G. The non-redundant function of cohesin acetyltransferase Esco2: some answers and new questions. Nucleus. 2012;3:330-4 pubmed
    ..Here, we provide evidence that Esco2 is also required for DSB repair, which is consistent with previous studies in RBS cells. ..
  41. Turkmen S, Spielmann M, Güneş N, Knaus A, Flöttmann R, Mundlos S, et al. A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia. Mol Syndromol. 2017;8:318-324 pubmed publisher
    ..in the frizzled class receptor 2 (FZD2) gene in a patient with distinct facial features including hypertelorism, bilateral cleft lip/palate, short nose with a broad nasal bridge, microretrognathia, and bilateral shortness ..
  42. Keng W, Cole T, Pilz D, Porteous M. Food aversion and facial dysmorphism--a newly described syndrome?. Clin Dysmorphol. 2002;11:249-53 pubmed
    ..We report three children with food aversion and characteristic facial dysmorphism, long digits and genitourinary abnormality. Interrogation of the London Dysmorphology Database suggests that this is a previously unreported syndrome. ..
  43. Kocak H, Ceylaner G. Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. Genet Couns. 2009;20:63-8 pubmed
    ..The clinical picture is highly variable, but major findings in FND include ocular hypertelorism, a broad nasal root, median cleft affecting nose or both the nose and upper lip, and widow's peak...
  44. Es Seddiki A, Rkain M, Ayyad A, Nkhili H, Amrani R, Benajiba N. [Partial facial duplication (a rare diprosopus): Case report and review of the literature]. Rev Stomatol Chir Maxillofac Chir Orale. 2015;116:376-9 pubmed publisher
    ..He presented with hypertelorism, 2 eyes, a tendency to nose duplication (flatted large nose, 2 columellae, 2 lateral nostrils separated in the ..
  45. Guen V, Gamble C, Perez D, Bourassa S, Zappel H, Gartner J, et al. STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis. Cell Cycle. 2016;15:678-88 pubmed publisher
    ..Moreover, they suggest that STAR syndrome is a ciliopathy. ..
  46. Rustico M, Lalatta F, Righini A, Spaccini L, Fabietti I, Nicolini U. The role of integrated imaging techniques for prenatal prediction of phenotype in two cases of facial anomalies. Prenat Diagn. 2004;24:508-12 pubmed
    ..and malformation of the ears with preauricular tags, while the other had bilateral dacryocystocele and severe hypertelorism. The images generated by three-dimensional ultrasound enabled the parents to visualize their child immediately ..
  47. Quaderi N, Schweiger S, Gaudenz K, Franco B, Rugarli E, Berger W, et al. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet. 1997;17:285-91 pubmed
    Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus...
  48. Der Kaloustian V, Pelletier M, Costa T, Blackston D, Oudjhane K. A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay. Clin Dysmorphol. 2001;10:87-93 pubmed
    ..boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper ..
  49. Blaas H, Eriksson A, Salvesen K, Isaksen C, Christensen B, Møllerløkken G, et al. Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 2002;19:24-38 pubmed
    ..To investigate the prenatal appearance of the holoprosencephaly spectrum...
  50. Priolo M, Ciccone R, Bova I, Campolo G, Laganà C, Zuffardi O. Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH. Eur J Med Genet. 2007;50:139-43 pubmed
    We report on a patient with mental and growth retardation, bilateral cleft lip and palate, hypertelorism, ptosis, hearing loss and mild epispadias, suggestive of Malpuech syndrome...
  51. Bhattacharjee A, Chakraborty A, Purkaystha P. Frontoethmoidal encephalomeningocoele with colpocephaly: case report and clinical review. J Laryngol Otol. 2008;122:321-3 pubmed
    ..The patient had a bulging mass in the middle frontonasal area, with broadening of the nasal bridge and hypertelorism. Computed tomography scans delineated the skull defect and associated brain anomalies...
  52. Pinzer T, Gollogly J, Krishnan K, Schackert G, Lauer G. Telecanthus and hypertelorism in frontoethmoidal meningoencephaloceles and the surgical correction of these conditions: Part I. An orbital anthropomorphometric evaluation of the Khmer subpopulation of Cambodia. J Craniofac Surg. 2008;19:137-47 pubmed publisher
    ..concerning a novel method on the surgical treatment of orbital dysmorphisms, especially telecanthus (TC) and hypertelorism (HT)...
  53. Demirci G, Atıs G, Altunay I. Waardenburg Syndrome type 1: A case report. Dermatol Online J. 2011;17:3 pubmed
    ..In this article, we report an 11-month-old boy with WS1, one of four clinicat types of WS. He exhibited white forelock, hypopigmented macules and patches, heterochromia irides, and dystopia canthorum...
  54. Cooke M, Davidson L, Livesey S. Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management. Int J Paediatr Dent. 2002;12:66-72 pubmed
    ..The orofacial features include coarse facies, frontal bossing, ocular hypertelorism, anterior open bite and macrodontia...
  55. Mu X, Zhang R, Wei M, Wang Y, Ding M, Zhang D, et al. Surgical correction of orbital and periorbital deformities using lamella and complex osteotomies in both orbital rim and wall. J Craniofac Surg. 2005;16:144-9 pubmed
    ..For dealing with the problems in orbital and periorbital deformities...
  56. Utine G, Aktas D. Mosaicism for terminal deletion of 4q. Genet Couns. 2006;17:205-9 pubmed
    ..The phenotypes of these two patients are very similar to that described in the literature, but milder because of the mosaic nature of cytogenetic abnormality...
  57. Martinez Glez V, Lorda Sanchez I, Ramirez J, Ruiz Barnes P, Rodriguez de Alba M, Diego Alvarez D, et al. Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion. Eur J Med Genet. 2007;50:120-7 pubmed
    ..in two familial cases of Axenfeld-Rieger Anomaly (ARA) featuring specific extra ocular manifestations-hypertelorism, midface hypoplasia, mild sensorial deafness, hydrocephaly, psychomotor delay and flattened femoral epiphyses...
  58. Torii C, Izumi K, Nakajima H, Takahashi T, Kosaki K. EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome. Congenit Anom (Kyoto). 2007;47:49-52 pubmed
    Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the ephrin-B1 gene (EFNB1)...
  59. Brooks J, Rivera Ramirez L, Errington L, Scheper M. Synchronous Paget disease of bone and hyperparathyroidism: report of a case with extensive craniofacial involvement. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011;111:e19-24 pubmed publisher
    ..The patient underwent a partial parathyroidectomy and bisphosphonate administration was to be initiated upon extraction of the remaining dentition...
  60. Adolphs N, Arnaud E, Haberl E, Graul Neumann L, Schmidt G, Menneking H, et al. The oculo-auriculo-fronto-nasal syndrome (OAFNS) - description of a rare and complex craniofacial deformity and its interdisciplinary management before school age. J Craniomaxillofac Surg. 2012;40:668-74 pubmed publisher
  61. Guen V, Gamble C, Flajolet M, Unger S, Thollet A, Ferandin Y, et al. CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome. Proc Natl Acad Sci U S A. 2013;110:19525-30 pubmed publisher
    ..Altogether, our results reveal an additional regulatory mechanism for ETS2, which plays key roles in cancer and development. They also shed light on the molecular mechanisms underlying STAR syndrome. ..
  62. Mahapatra A, Dev E, Krishnan A, Sharma R. Craniofacial surgery for leaking encephalocele in a newborn baby. Childs Nerv Syst. 2001;17:626-8 pubmed
    ..One-stage repair of the encephalocele was performed, along with correction of hypertelorism and bone grafting over the forehead...
  63. Okkerse J, Beemer F, de Jong T, Mellenbergh G, Vaandrager J, Vermeij Keers C, et al. Condition variables in children with craniofacial anomalies: a descriptive study. J Craniofac Surg. 2004;15:151-6; discussion 157 pubmed
    ..Craniosynostosis occurred in 160 children (74%), a syndromic diagnosis in 108 (50%), and clinical hypertelorism in 72 (33%). The mean phenotypical expression score was 4.8 (SD = 2...
  64. Fox L, Geyer A, Anyane Yeboa K, Garzon M. Cutis verticis gyrata in a patient with Noonan syndrome. Pediatr Dermatol. 2005;22:142-6 pubmed
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    We report on a 4 1/2-year-old girl with clinical features of Teebi hypertelorism syndrome (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, hypertelorism, long palpebral fissures, ptosis, a thin upper ..
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    ..Childhood onset of nasal polyposis was reported. In addition, hypertelorism and bilateral epiphora were present...
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    ..It remains uncertain whether the MRI findings are specific to the present patient or form part of the SBBYS syndrome...
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    ..Condition variables were brain anomalies, obliterated sutures, syndromic diagnosis, hypertelorism, phenotypical expression, age at craniotomy, and hospitalizations...
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    Opitz G BBB syndrome is a rare condition characterized by the 3 major anomalies of hypertelorism, cleft lip and palate, and hypospadias, although there may be other associated anomalies...
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    ..two unrelated Brazilian boys who have craniofacial and digital anomalies resembling those reported with Teebi hypertelorism syndrome...
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    ..face, single median maxillary central incisor (SMMCI), prominent forehead, down-slanting palpebral fissures, hypertelorism, a high-arched palate, micrognathia and low-set ears...
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    ..and anomalous coarse facies characterized by deformed skull with narrow forehead, low anterior hairline, hypertelorism, short philtrum, thin upper lip, and prominent jaw; cerebellar vermis hypoplasia; dilatation of the fourth ..
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