Summary: Defective bone formation involving individual bones, singly or in combination.

Top Publications

  1. Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, et al. Spine and rib abnormalities and stature in spondylocostal dysostosis. Spine (Phila Pa 1976). 2006;31:E192-7 pubmed
    ..A retrospective study of radiographic and clinical findings of spondylocostal dysostosis...
  2. Bonafe L, Giunta C, Gassner M, Steinmann B, Superti Furga A. A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. Clin Genet. 2003;64:28-35 pubmed
  3. Towle H, Breur G. Dysostoses of the canine and feline appendicular skeleton. J Am Vet Med Assoc. 2004;225:1685-92 pubmed
  4. Kusumi K, Turnpenny P. Formation errors of the vertebral column. J Bone Joint Surg Am. 2007;89 Suppl 1:64-71 pubmed
  5. Al Kaissi A, Ben Chehida F, Ben Ghachem M, Klaushofer K, Grill F. Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning. Spine (Phila Pa 1976). 2008;33:E425-8 pubmed publisher
    ..A study on a pair of male sibs to reach for the etiological understanding of unusual skull base/spine maldevelopment...
  6. Duru S, Ceylan S, Guvenc B. Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature. Pediatr Neurosurg. 1999;30:272-7 pubmed
    ..Therefore, additional genetical and embryological studies are necessary to provide evidence of an etiological link between SCD and NTD...
  7. Turnpenny P, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S. Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet. 2003;40:333-9 pubmed
    The spondylocostal dysostoses (SCD) are a group of disorders characterised by multiple vertebral segmentation defects and rib anomalies...
  8. Bannykh S, Emery S, Gerber J, Jones K, Benirschke K, Masliah E. Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. Am J Med Genet A. 2003;120A:241-6 pubmed
    ..Immunochemical analysis showed a significant reduction in levels of Pax1 and Pax9 protein expression in chondrocytes of the vertebral column. Implications for the etiology and pathogenesis of JLS and related disorders are discussed. ..
  9. Sondalle S, Baserga S, Yelick P. The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development. J Dent Res. 2016;95:1214-20 pubmed publisher
    ..research in this field is anticipated to provide insight into a variety of previously understudied craniofacial dysostoses and result in significantly improved knowledge and understanding of roles for translational machinery in human ..

More Information

Publications103 found, 100 shown here

  1. Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, et al. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med. 2011;364:2218-26 pubmed publisher
  2. Lai L, Lachman R. Early characteristic radiographic changes in mucolipidosis II. Pediatr Radiol. 2016;46:1713-1720 pubmed
    ..These findings are not found in the other two forms of mucolipidosis nor in any of the mucopolysaccharidoses. ..
  3. Hashemi Gorji F, Ghafouri Fard S, Salehpour S, Yassaee V, Miryounesi M. A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II ?/?. J Pediatr Endocrinol Metab. 2016;29:991-3 pubmed publisher
    ..P1084_R1112del F1113Vfs*1). Consequently, we confirmed the association of this mutation with ML II ?/?. Our finding expands the number of reported cases of this rare metabolic disorder and adds to the GNPTAB mutation database. ..
  4. Alonzo Rojo A, Garcia Ortiz J, Ortiz Aranda M, Gallegos Arreola M, Figuera Villanueva L. Clinical features of Mexican patients with Mucopolysaccharidosis type I. Genet Mol Res. 2017;16: pubmed publisher
    ..A better understanding of the spectrum of this disease can assist in diagnosis, treatment, and improvement in the quality of life for these patients. ..
  5. Briet C, Pereda A, Le Stunff C, Motte E, de Dios García Díaz J, de Nanclares G, et al. Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3. Hum Mol Genet. 2017;26:3883-3894 pubmed publisher
    ..These findings may offer new perspectives into the selection of specific PDE inhibitors and possible therapeutic intervention for these patients. ..
  6. Kirnap M, Calis M, Gokce C, Kurtoglu S, Ozturk M, Kelestimur F. Acrodysostosis associated with hypercalcemia. Hormones (Athens). 2013;12:309-11 pubmed
    ..Based on these findings, a diagnosis of acrodysostosis associated with hypercalcemia was made. To the best of our knowledge, this represents the first description of this syndrome. ..
  7. Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, et al. Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. Brain Dev. 2017;39:177-181 pubmed publisher
    ..Seizures are thus a main feature of mandibulofacial dysostosis with microcephaly, which results from an embryonic development defect due to the EFTUD2 mutation. ..
  8. Sewell W, Kusumi K. Genetic analysis of molecular oscillators in mammalian somitogenesis: clues for studies of human vertebral disorders. Birth Defects Res C Embryo Today. 2007;81:111-20 pubmed
  9. Tubbs R, Wellons J, Blount J, Oakes W. Jarcho-Levin syndrome. Pediatr Neurosurg. 2002;36:279 pubmed
  10. Morishita K, Petty R. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology (Oxford). 2011;50 Suppl 5:v19-25 pubmed publisher
    ..Rheumatologists and other specialists should be aware of the musculoskeletal manifestations of MPS so that diagnostic delays can be avoided and appropriate management initiated. ..
  11. Hertz J, Juncker I, Christensen L, Østergaard J, Jensen P. [The molecular genetic background of hereditary craniosynostoses and chondrodysplasias]. Ugeskr Laeger. 2001;163:4862-7 pubmed
    ..The chondrodysplasias: achondroplasia, hypochondroplasia, and thanatophoric dysplasia are all caused by mutations in FGFR3. ..
  12. Swietlinski J, Swist Szulik K, Maruniak Chudek I, Pyrkosz A. Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly. Genet Couns. 2002;13:309-17 pubmed
    ..History of family and pregnancy-labour were non-contributory. The findings in the present patient are most compatible with the diagnosis of a spondylothoracic dysostosis with a set of uncommon anomalies. ..
  13. Teli M, Hosalkar H, Gill I, Noordeen H. Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means. Spine (Phila Pa 1976). 2004;29:1447-51 pubmed
    ..Postnatally, prompt management of these patients with physiotherapy leads to prolonged survival. Surgical intervention may then be indicated to stabilize chest wall or spine deformities, with promising results. ..
  14. Zhao Q, Jia Y, Xiao Y. Cathepsin K: a therapeutic target for bone diseases. Biochem Biophys Res Commun. 2009;380:721-3 pubmed publisher
    ..In this review, some of the known features of cathepsin K such as structure, function in bone resorption, gene regulation and its roles in physiological or pathophysiological processes are highlighted. ..
  15. Cassina M, Cerqua C, Rossi S, Salviati L, Martini A, Clementi M, et al. A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. Eur J Hum Genet. 2017;25:371-375 pubmed publisher
  16. Lefebvre M, Duffourd Y, Jouan T, Poe C, Jean Marçais N, Verloes A, et al. Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. Clin Genet. 2017;91:908-912 pubmed publisher
    ..The three rare variants were affecting the chromatin-binding domain. Our data illustrate the variable expressivity of recessive TBX6 ranging from CS to SCD. ..
  17. Pons Odena M, Vergés A, Arza N, Cambra F. Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia. BMJ Case Rep. 2017;2017: pubmed publisher
    ..This mode could be an option to consider in selected patients with difficult weaning from mechanical ventilation in paediatric intensive care units. ..
  18. Erdos M, Marodi L. [Shwachman-Diamond syndrome: clinical manifestations and molecular genetics]. Orv Hetil. 2007;148:513-9 pubmed
    ..R175W) were found. Recently, the mother became pregnant again and requested prenatal diagnosis, which revealed a carrier status of the c.523C > T, (p.R175W) mutation only, so the mother decided to complete the pregnancy. ..
  19. Agerholm J, McEvoy F, Heegaard S, Charlier C, Jagannathan V, Drogemuller C. A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle. BMC Genet. 2017;18:74 pubmed publisher
  20. Kulczyk T, Przystańska A, Rewekant A, Turska Malińska R, Czajka Jakubowska A. Maxillary sinuses and midface in patients with cleidocranial dysostosis. Ann Anat. 2018;215:78-82 pubmed publisher
    ..Horizontal dimensions were also lower. There are morphological modifications of bone tissue which accompany CCD. It seems that these changes occur on the midfacial region and to a greater extent concern the maxillary sinus volume. ..
  21. Megarbane A, Ghanem I. Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis. Am J Med Genet. 2002;112:394-6 pubmed
    ..To the best of our knowledge, this combination of multiple congenital skeletal abnormalities has not been reported before...
  22. Atabek M, Pirgon O, Sert A. Metabolic syndrome manifestations in an adolescent with acrodysostosis. J Pediatr Endocrinol Metab. 2007;20:739-41 pubmed
  23. Dikoglu E, Simsek Kiper P, Utine G, Campos Xavier B, Boduroglu K, Bonafe L, et al. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. Am J Med Genet A. 2013;161A:3161-5 pubmed publisher
    ..841C>T) in TBX15 predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15. ..
  24. Uchiumi T, Kang D. Mitochondrial nucleic acid binding proteins associated with diseases. Front Biosci (Landmark Ed). 2017;22:168-179 pubmed
    ..Finally, we explain that p32 and mitochondrial creatine kinase may be novel markers for the progression of prostate cancer. ..
  25. Opitz J, Utkus A. Comments on biological asymmetry. Am J Med Genet. 2001;101:359-69 pubmed
    ..In this paper we will attempt to enumerate the causal forms and bases of biological asymmetry. ..
  26. Nader A, Sedivy R. [Rokitansky's first description of a spondylocostal dysplasia, dysostosis]. Wien Med Wochenschr. 2004;154:472-4 pubmed
    ..It is, to the best of our knowledge, the first description of a spondylocostal dysplasia, re-discovered many years later, precisely described and accompanied by an excellent illustration. ..
  27. Palmer E, Kumar R, Gordon C, Shaw M, Hubert L, Carroll R, et al. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. Am J Hum Genet. 2017;101:995-1005 pubmed publisher
  28. Takeda K, Kou I, Kawakami N, Yasuhiko Y, Ogura Y, Imagawa E, et al. Response to Lefebvre et al. Clin Genet. 2017;92:563-564 pubmed publisher
    ..The results were negative for the proposal of Lefebvre et al. We consider these 2 SCD patients are more probably compound heterozygotes of null mutations and a common risk haplotype just as CS patients with TBX6 mutations...
  29. Captier G, Tourbach S, Bigorre M, Saguintaah M, El Ahmar J, Montoya P. Anatomical consideration of the congenital nasal pyriform aperture stenosis: localized dysostosis without interorbital hypoplasia. J Craniofac Surg. 2004;15:490-6 pubmed
    ..It may be associated with a single median maxillary central incisor but cannot be viewed as a minor form of holoprosencephaly. ..
  30. Silve C, Clauser E, Linglart A. Acrodysostosis. Horm Metab Res. 2012;44:749-58 pubmed publisher
  31. Lynch D, Dyment D, Huang L, Nikkel S, Lacombe D, Campeau P, et al. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013;34:97-102 pubmed publisher
  32. Pineda M, O CALLAGHAN M, Fernandez Lopez A, Coll M, Ullot R, García Fructuoso G. Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome. JIMD Rep. 2016;30:7-14 pubmed
    ..The early diagnosis and treatment of MPS VI are critical for an optimal clinical outcome, and further evidence for the new treatment strategies is needed. ..
  33. Shi L, Luo C, Ahmed M, Attaie A, Ye X. Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. Mol Genet Genomics. 2016;291:863-72 pubmed publisher
    ..To our knowledge, this is the first report of EVC mutations that cause EvC syndrome in Chinese population. Our data revealed that EVC splice site mutations altered splicing pattern and helped elucidate the pathogenesis of EvC syndrome. ..
  34. Guibaud L, Collardeau Frachon S, Lacalm A, Massoud M, Rossi M, Cordier M, et al. Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings. J Inherit Metab Dis. 2017;40:103-112 pubmed publisher
    ..system (CNS) anomalies, echogenic kidneys, epiphyseal stippling, craniosynostosis, and a wide spectrum of dysostoses. These anomalies can be isolated, but in most cases, an IEM is suggested by an association of features...
  35. Valentino G, David G, Previtero G, Troisi S. [Diagnosis and logopedic rehabilitation in mandibulofacial dysostosis: a case report]. Acta Otorhinolaryngol Ital. 1996;16:136-9 pubmed
    ..Treacher Collins-Franceschetti have a very good chance of being inserted into society furthermore improved by the absence lack of mental deficiency and by spontaneous improvement in physical appearance. ..
  36. Bulman M, Kusumi K, Frayling T, McKeown C, Garrett C, Lander E, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet. 2000;24:438-41 pubmed
    ..These represent the first mutations in a human Delta homologue, thus highlighting the critical role of the Notch signalling pathway and its components in patterning the mammalian axial ..
  37. Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer. 2005;45:892-901 pubmed
    ..We also review the diagnostic and therapeutic approaches to the hematological complications in the syndrome...
  38. Ediz S, Aralasmak A, Yılmaz T, Toprak H, Yeşil G, Alkan A. MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. Brain Dev. 2016;38:435-8 pubmed publisher
    ..Two recent reports of MRS of two patients demonstrated that MRS is specific for fucosidosis. In this case, we aim to discuss fucosidosis with MRI and MRS findings accompanied by the literature. ..
  39. Kara B, KöroÄŸlu Ã, Peltonen K, Steinberg R, MaraÅŸ Genç H, Hölttä Vuori M, et al. Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A. Eur J Hum Genet. 2017;25:315-323 pubmed publisher
    ..Of those, POLR1C is also implicated in a mandibulofacial dysostosis syndrome without leukodystrophy as POLR1A is. This syndrome is absent in the family we present. ..
  40. Ornetti P, Prati C, Fery Blanco C, Streit G, Toussirot E, Wendling D. Pedicle stress fracture: an unusual complication of pycnodysostosis. Clin Rheumatol. 2008;27:385-7 pubmed
    ..The dramatic improvement achieved by calcitonin therapy might be related to osteoclastic dysfunction in pycnodysostosis caused by a deficiency of cathepsin K, a cystein protease involved in bone matrix remodelling...
  41. Corsello G, Giuffrè M. Congenital malformations. J Matern Fetal Neonatal Med. 2012;25 Suppl 1:25-9 pubmed publisher
    ..Because of their increasing life expectancy, congenital malformations represent today a major issue in the health services for the amount of resources they need for the requested multidisciplinary assistance...
  42. Florio I, Wisser J, Huch R, Huch A. Prenatal ultrasound diagnosis of a femur-fibula-ulna complex during the first half of pregnancy. Fetal Diagn Ther. 1999;14:310-2 pubmed
    ..The importance of an early diagnosis of this malformation is emphasized with respect to parental counselling concerning prognosis and further prenatal management...
  43. Elcioglu N, Vellodi A, Hall C. Dysosteosclerosis: a report of three new cases and evolution of the radiological findings. J Med Genet. 2002;39:603-7 pubmed
  44. Etus V, Ceylan S. Association of spondylocostal dysostosis and type I split cord malformation. Neurol Sci. 2003;24:134-7 pubmed
    ..The association of segmental costovertebral malformations and neural tube defects is discussed. Genetic and embryological studies are also briefly reviewed...
  45. Tamay Z, Guler N, Ones U, Leman O, Akcay A. Thoracic three-dimensional spiral CT findings of an infant with spondylothoracic dysostosis. Indian J Pediatr. 2005;72:367 pubmed
    Spondylocostal dysostoses are a group of rare inherited disease with a heterogeneous disorder of vertebral segmentation defects and rib anomalies, which lead to respiratory problems predicting the clinical outcome...
  46. Fiszer Szafarz B, Czartoryska B, Tylki Szymanska A. Serum hyaluronidase aberrations in metabolic and morphogenetic disorders. Glycoconj J. 2005;22:395-400 pubmed
    ..Serum HA concentration was elevated in patients with Sanfilippo A and I-cell disease. Determination of serum and leukocyte Hyal-1 and serum HA may be useful to evaluate patients with metabolic and morphogenetic disorders...
  47. Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, et al. Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. Hum Mutat. 2007;28:524 pubmed
    ..Molecular characterization of the patients is of particular value for genetic counseling of patients and their families as diagnosis of Pycnodysostosis based on enzyme assay is unpractical and thus not offered routinely...
  48. Turnpenny P, Alman B, Cornier A, Giampietro P, Offiah A, Tassy O, et al. Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn. 2007;236:1456-74 pubmed
    ..Here, we deal mainly with SCD and AGS, and present a new classification system for AVS phenotypes, for which, hitherto, the terminology has been inconsistent and confusing...
  49. Cornier A, Staehling Hampton K, Delventhal K, Saga Y, Caubet J, Sasaki N, et al. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008;82:1334-41 pubmed publisher
    ..Thus, all affected probands harbored the E103X mutation. Our findings suggest a founder-effect mutation in the MESP2 gene as a major cause of the classical Puerto Rican form of STD/JLS...
  50. Sparrow D, Guillen Navarro E, Fatkin D, Dunwoodie S. Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. Hum Mol Genet. 2008;17:3761-6 pubmed publisher
    ..This is the first report of mutation in the human HES7 gene, and provides further evidence for the importance of the Notch signaling pathway in the correct patterning of the axial skeleton...
  51. Phadke S, Ranganath P, Boggula V, Gupta D, Phadke R, Sloman M, et al. Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?. Am J Med Genet A. 2012;158A:3065-70 pubmed publisher
  52. Verloes A, Muller C, Philippet P. New dysostosis showing multilevel absence of vertebral pedicles: unique developmental anomaly of vertebral arches?. Am J Med Genet. 2000;95:473-6 pubmed
    ..Because the anomalies affect multiple levels, we highly suspect a genetic basis to this unusual dysostosis affecting the development of the posterior sclerotomes...
  53. Dauwerse J, Bouman K, van Essen A, Van der Hout A, Kolsters G, Breuning M, et al. Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. J Med Genet. 2002;39:136-41 pubmed
  54. Sala D, Chu M, Moran E, Bencardino J, Vine D. Tethered cord in a patient with multiple vertebral segmentation defects: a case report. Bull Hosp Jt Dis. 2001;60:96-9 pubmed
    ..We recommend that the management of patients with MVSD include comprehensive neurological evaluation and monitoring with appropriate electrodiagnostic, urodynamic, and neuroimaging studies...
  55. Sparrow D, Chapman G, Wouters M, Whittock N, Ellard S, Fatkin D, et al. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet. 2006;78:28-37 pubmed
    The spondylocostal dysostoses (SCDs) are a heterogeneous group of vertebral malsegmentation disorders that arise during embryonic development by a disruption of somitogenesis...
  56. Lee J, Bae S, Yu J, Lee R, Yun Y, Song E. A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child. J Korean Med Sci. 2008;23:142-5 pubmed publisher
    ..183_184TA>CT mutation and c.201A>G single nucleotide polymorphism. Treatment with pancreatic enzyme replacement, multivitamin supplementation, and regular to high fat diet improved her weight gain and steatorrhea...
  57. Coman D, Bacic S, Boys A, Sparrow D, Dunwoodie S, Savarirayan R, et al. Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. Am J Med Genet A. 2008;146A:1972-6 pubmed publisher
    The spondylocostal dysostoses (SCD) are a clinically and genetically heterogeneous group of disorders characterized by defects of vertebral segmentation and rib abnormalities. We report on the diagnosis of two siblings with SCD...
  58. Matsuhashi T, Iwasaki N, Oizumi N, Kato H, Minami M, Minami A. Radial overgrowth after radial shortening osteotomies for skeletally immature patients with Kienböck's disease. J Hand Surg Am. 2009;34:1242-7 pubmed publisher
  59. Gucev Z, Tasic V, Pop Jordanova N, Sparrow D, Dunwoodie S, Ellard S, et al. Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. Am J Med Genet A. 2010;152A:1378-82 pubmed publisher
    The spondylocostal dysostoses (SCDs) are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV) and abnormality of the thoracic cage with mal-aligned ribs and often a ..
  60. Turnpenny P. Defective somitogenesis and abnormal vertebral segmentation in man. Adv Exp Med Biol. 2008;638:164-89 pubmed
    ..Significant future challenges lie in identifying causes of the many abnormal segmentation phenotypes in man but it is hoped that combined approaches in collaboration with developmental biologists will reap rewards...
  61. Linglart A, Fryssira H, Hiort O, Holterhus P, Perez de Nanclares G, Argente J, et al. PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. J Clin Endocrinol Metab. 2012;97:E2328-38 pubmed publisher
    ..Acrodysostosis is genetically heterogeneous because it results from heterozygous mutations in PRKAR1A or PDE4D, two key actors in the GPCR-cAMP-protein kinase A pathway...
  62. Strisciuglio P, Sly W, Dodson W, McAlister W, Martin T. Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form. Am J Med Genet. 1990;37:573-7 pubmed
  63. Dutton R. A practical radiologic approach to skeletal dysplasias in infancy. Radiol Clin North Am. 1987;25:1211-33 pubmed
    ..This accumulated knowledge, as well as newer methods of antenatal detection, has significantly heightened the general interest in these disorders...
  64. Nevin N, Leonard A, Jones B. Frontonasal dysostosis in two successive generations. Am J Med Genet. 1999;87:251-3 pubmed
    ..This observation suggests either autosomal dominant or X-linked dominant inheritance. The family illustrates the importance of identifying mild expression of frontonasal dysostosis before genetic counseling...
  65. Isono M, Goda M, Kamida T, Ishii K, Kobayashi H, Maeda T, et al. Limited dorsal myeloschisis associated with multiple vertebral segmentation disorder. Pediatr Neurosurg. 2002;36:44-7 pubmed
    ..The anomalies in this case were considered to be multiple vertebral segmentation disorder (MVSD) and limited dorsal myeloschisis. The coincidence of these anomalies might suggest the causal genesis of MVSD...
  66. Nørholt S, Bjerregaard J, Mosekilde L. Maxillary distraction osteogenesis in a patient with pycnodysostosis: a case report. J Oral Maxillofac Surg. 2004;62:1037-40 pubmed
  67. Wadia F, Shah N, Porter M. Bilateral charnley low-friction arthroplasty with cement in a patient with pyknodysostosis. A case report. J Bone Joint Surg Am. 2006;88:1846-8 pubmed
  68. Rimoin D, Cohn D, Krakow D, Wilcox W, Lachman R, Alanay Y. The skeletal dysplasias: clinical-molecular correlations. Ann N Y Acad Sci. 2007;1117:302-9 pubmed
    ..Instructions on accessing the Registry, using the diagnostic services provided and contributing cases for collaborative research can be found at http://www.csmc.edu/skeletaldysplasia...
  69. Hermanns P, Unger S, Rossi A, Perez Aytes A, Cortina H, Bonafe L, et al. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet. 2008;82:1368-74 pubmed publisher
    ..These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal dysplasia Omani type form a phenotypic spectrum...
  70. Phillips J, van Aalst J. Jeune's syndrome (asphyxiating thoracic dystrophy): congenital and acquired. Semin Pediatr Surg. 2008;17:167-72 pubmed publisher
    ..Repair techniques typically involve re-do Ravitch-type procedures or median sternotomy with rib graft interposition. Mild to moderate improvements in pulmonary function tests have been documented...
  71. Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, et al. Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum Mutat. 2009;30:1667-75 pubmed publisher
  72. Michigami T. [Genetic basis for skeletal disease. Molecular advances in sclerosing bone disorders]. Clin Calcium. 2010;20:1196-202 pubmed publisher
    ..As to the sclerosing bone diseases related to the increased bone formation, molecular analyses of these disorders uncovered the involvement of TGF-beta and Wnt signaling in the regulation of bone mass...
  73. Kurt F, Ceylaner S, Yakut H. Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome?. Genet Couns. 2013;24:75-80 pubmed
    ..We report a patient with acromesomelic dysplasia, cardiac and neurologic abnormalities. This may be a new syndrome or cardiac and neurologic features may be undescribed rare features of acromesomelic dysplasia...
  74. Graham J, Krakow D, Tolo V, Smith A, Lachman R. Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. Pediatr Radiol. 2001;31:2-9 pubmed
    ..These radiographic and laboratory findings substantiate that acrodysostosis is clinically different from pseudohypoparathyroidism and that it is necessary to follow patients with acrodysostosis for signs of spinal stenosis...
  75. Ram P, Ram S, Neitzschman H. Radiology case of the month. Sclerotic bone disease in an 8-year-old dwarf. Pycnodysostosis. J La State Med Soc. 2002;154:287-8 pubmed
  76. Martínez Frías M. Segmentation anomalies of the vertebras and ribs: one expression of the primary developmental field. Am J Med Genet A. 2004;128A:127-31 pubmed
  77. Onenli Mungan N, Ozer G, Altunbasak S, Besley G, Yuksel B, Topaloglu A, et al. Fucosidosis with hypothyroidism: a case report. Turk J Pediatr. 2004;46:170-3 pubmed
    ..Fucosidase enzyme activity was zero. In addition to fucosidosis, thyroid function tests indicated primary hypothyroidism. This is, to the best of our knowledge, the fourth case of fucosidosis diagnosed in Turkey...
  78. Fredrick L, Beall D, Ly J, Fish J. The symptomatic accessory navicular bone: a report and discussion of the clinical presentation. Curr Probl Diagn Radiol. 2005;34:47-50 pubmed
    ..The following case demonstrates the presence of a symptomatic accessory navicular bone in a young athlete...
  79. Wong G, Wong S, Chan W, Ng W. Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy. Ultrasound Obstet Gynecol. 2006;27:580-2 pubmed
    ..Three-dimensional ultrasound demonstrated a 'fan-like' rib cage with fusion of the ribs. The postmortem findings confirmed the ultrasound findings and were consistent with SCD...
  80. Manger K, Nüsslein H, Schett G, Manger B. Rare monogenetic syndromes in rheumatology practice. Clin Rheumatol. 2009;28:623-30 pubmed publisher
  81. Ruiz Perez V, Goodship J. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet C Semin Med Genet. 2009;151C:341-51 pubmed publisher
    ..We conclude that the phenotypic abnormalities in EvC and Weyers syndrome result from tissue specific disruption of the response to Hh ligands...
  82. Scottoline B, Rosenthal S, Keisari R, Kirpekar R, Angell C, Wallerstein R. Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics. Am J Med Genet A. 2012;158A:1447-51 pubmed publisher
    ..It is one of a number of spinal dysostoses, which are a heterogeneous group of axial skeletal malformations occurring during blastogenesis with continued ..
  83. Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid B, et al. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. J Med Genet. 2014;51:45-54 pubmed publisher
  84. Ruiz Perez V, Ide S, Strom T, Lorenz B, Wilson D, Woods K, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. 2000;24:283-6 pubmed
    ..We suggest that EvC and Weyers acrodental dysostosis are allelic conditions...
  85. Nishimura G, Kim O, Sato S, Hasegawa T. Ischiospinal dysostosis with cystic kidney disease: report of two cases. Clin Dysmorphol. 2003;12:101-4 pubmed
    ..Renal malformations in ISD may be variable, ranging from diffuse nephroblastomatosis to a solitary renal cyst...
  86. Fratzl Zelman N, Valenta A, Roschger P, Nader A, Gelb B, Fratzl P, et al. Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. J Clin Endocrinol Metab. 2004;89:1538-47 pubmed
  87. Bates A, Nale K. Segmentation defects of the human axial skeleton without dysostoses or skeletal dysplasias. Fetal Pediatr Pathol. 2005;24:121-7 pubmed
    ..Radiographs of all fetuses and infants at autopsy are recommended as they may uncover axial skeletal abnormalities...
  88. Cetinkaya M, Ozkan H, Koksal N, Yazici Z, Yalcinkaya U. Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. Clin Dysmorphol. 2008;17:151-4 pubmed publisher
  89. Honjo R, Casella E, Vieira M, Bertola D, Albano L, Oliveira L, et al. Spondylocostal dysostosis associated with methylmalonic aciduria. Genet Test Mol Biomarkers. 2009;13:181-3 pubmed publisher
    ..Here we report on a case of a Brazilian boy with both diseases. As we know, it is the first case in the literature with the occurrence of both SCD and MMA--the first a skeletal disease and the latter an inborn error of metabolism...
  90. Sezer N, Sutbeyaz S, Koseoglu F, Aras M, Akin C. Adult case of acrodysostosis with severe neurologic involvement. J Back Musculoskelet Rehabil. 2009;22:125-9 pubmed publisher
    ..We report one further adult case of acrodysostosis with severe neurologic findings including myelopathy and spastic paraparesis due to diffuse spinal stenosis and recurrent deep vein thrombosis possibly caused by neurologic deficits...
  91. Sparrow D, Sillence D, Wouters M, Turnpenny P, Dunwoodie S. Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. Eur J Hum Genet. 2010;18:674-9 pubmed publisher
    ..In vitro functional analysis revealed that one of the mutant HES7 proteins was unable to repress gene expression by DNA binding or protein heterodimerization...
  92. Nishimura G. [Genetic basis for skeletal disease. Radiological approach for genetic skeletal disorders]. Clin Calcium. 2010;20:1175-81 pubmed publisher
    ..However, it is important to realize that a radiological diagnosis of bone dysplasias depends on an overall pattern of skeletal abnormalities rather than single radiological signs, alone or in combination...