Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases

Autor:	A M, Elliott, E R, Roeder, D R, Witt, D L, Rimoin, R S, Lachman
Rok vydání:	2001
Předmět:	Adult Male Shoulder Infant Newborn Dysostoses Genes Recessive Genitalia Female Syndrome Genitalia Male Magnetic Resonance Imaging Pelvis Radiography Scapula Genetic Heterogeneity Humans Abnormalities Multiple Female Autopsy Genes Dominant
Zdroj:	American journal of medical genetics. 95(5)
ISSN:	0148-7299
Popis:	We report on 3 patients (2 sibs and an unrelated adult woman) with scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) each of whom has additional abnormalities not previously reported in the literature. The clinical spectrum of this entity is discussed along with possible inheritance patterns.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::4979290a8a4d003ccb606a1163f2ce9e https://pubmed.ncbi.nlm.nih.gov/11146473 Zobrazit plný text záznamu Plný text