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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Other syndromes with brachytelephalangy or absent terminal phalanx include Sorsby syndrome: brachydactyly type B associated with macular coloboma and renal anomalies. Robinow syndrome: brachydactyly with broad thumbs, the predominant features are typical facial features (‘fetal’ face), mesomelic limb shortening, abnormalities of the oral cavity, hypoplastic genitalia. Acrodysostosis: short hands and feet, hypoplastic nose, progressive short stature and mental retardation. Epiphyseal stippling in neonates, hydrocephalus and hearing loss have been described. Chondrodysplasia punctata X-linked recessive (CDPX1) (p. 272); Keutel syndrome: very rare, recessive disorder characterised by short terminal phalanges, diffuse and progressive calcification of nose, auricles, respiratory tract cartilages, dysmorphic facial features and peripheral pulmonary stenosis. Caused by mutations in the vitamin K-dependent matrix Gla protein (MGP). Zimmermann-Laband syndrome: rare disorder characterised by hypoplasia of the distal phalanges and dysplastic or absent nails associated with abnormalities of the cartilage of the nose and ears, gingival fibromatosis, scoliosis, hepatosplenomegaly, cardiomyopathy, hirsutism.
Molecular Genetics of Cleidocranial Dysplasia
Published in Fetal and Pediatric Pathology, 2021
Jamshid Motaei, Arash Salmaninejad, Ebrahim Jamali, Imaneh Khorsand, Mohammad Ahmadvand, Sasan Shabani, Farshid Karimi, Mohammad Sadegh Nazari, Golsa Ketabchi, Fatemeh Naqipour
Most ST are isolated cases, but some may be hereditary and associated with some syndromes. In a review article, Lubinsky et al, reports about 8 genetic syndromes with strong evidence for ST [52]. Syndromes that show supernumerary teeth include cleidocranial dysplasia, familial adenomatous polyposis, trichorhinophalangeal syndrome type I, Rubinstein–Taybi syndrome, Nance–Horan syndrome, Opitz BBB/G syndrome, oculofaciocardiodental syndrome and autosomal dominant Robinow syndrome. Several members of a single kindred in the Kreiborg–Pakistani syndrome (OMIM 614188) and insulin resistant diabetes mellitus with acanthosis nigricans (OMIM 610549) have been reported with ST [52,55,56]. Some Mendelian disorder have ST: Fabry disease, Ellis–van Creveld syndrome, Apert and Crouzon syndromes, Hallermann–Streiff syndrome, Zimmermann–Laband syndrome and Ehlers–Danlos syndrome [52].