New mesomelic dysplasia with absent fibulae and triangular tibiae

Autor:	R, Savarirayan, V, Cormier-Daire, C J, Curry, M B, Nashelsky, V, Rappaport, D L, Rimoin, R S, Lachman
Rok vydání:	2000
Předmět:	Radiography Bone Diseases Developmental Tibia Fibula Humans Infant Female Congenital Abnormalities
Zdroj:	American journal of medical genetics. 94(1)
ISSN:	0148-7299
Popis:	We report on two unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulae and severely hypoplastic, triangular-shaped tibiae. Moderate mesomelic shortness was present in the upper limbs with proximal widening of the ulnae. There was also axial skeletal involvement in both cases, characterized radiographically by an abnormal pelvis and marked bilateral glenoid hypoplasia. These cases appear to represent a new form of mesomelic dysplasia distinct from those previously delineated.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::9ce080355a1e6132f9664bfe5c1e6aa4 https://pubmed.ncbi.nlm.nih.gov/10982484 Zobrazit plný text záznamu Plný text