Limb anomalies in DiGeorge and CHARGE syndromes

Autor:	C, Prasad, E J, Quackenbush, D, Whiteman, B, Korf
Rok vydání:	1997
Předmět:	Heart Defects Congenital Male Ectromelia Chromosomes Human Pair 22 Infant Newborn Limb Deformities Congenital Ear Choanal Atresia Coloboma Clubfoot Thumb DiGeorge Syndrome Humans Abnormalities Multiple Female Genitalia Syndactyly Growth Disorders In Situ Hybridization Fluorescence Sequence Deletion
Zdroj:	American journal of medical genetics. 68(2)
ISSN:	0148-7299
Popis:	Limb anomalies are not common in the DiGeorge or CHARGE syndromes. We describe limb anomalies in two children, one with DiGeorge and the other with CHARGE syndrome. Our first patient had a bifid left thumb, Tetralogy of Fallot, absent thymus, right facial palsy, and a reduced number of T-cells. A deletion of 22q11 was detected by fluorescence in situ hybridization (FISH). The second patient, with CHARGE syndrome, had asymmetric findings that included right fifth finger clinodactyly, camptodactyly, tibial hemimelia and dimpling, and severe club-foot. The expanded spectrum of the DiGeorge and CHARGE syndromes includes limb anomalies.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::e16f3374671ac59cb957bf8b2b427bab https://pubmed.ncbi.nlm.nih.gov/9028454 Zobrazit plný text záznamu Plný text