An apparently new syndrome of bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay

Autor:	lyn chitty, Cm, Hall, Pj, Webb, Baraitser M
Rok vydání:	1993
Předmět:	Male Radiography Bone Diseases Metabolic Fractures Bone Radius Thumb Tibia Developmental Disabilities Humans Female Syndrome Child Pedigree
Zdroj:	Europe PubMed Central
ISSN:	0962-8827
Popis:	We report two siblings with bowed tibia, hypoplastic thumbs, multiple fractures, a distinctive facial phenotype and developmental delay. These children share some features with other cases reported in the literature but we consider that they represent a new syndrome.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e81cf07c7dc0d52e28e52cbbafdca34a https://pubmed.ncbi.nlm.nih.gov/7506966 Zobrazit plný text záznamu