Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites

Autor:	Nic, Torbert, Suzanne, Reuter, Angela, Myers, Kristen, De Berg, Patricia L, Crotwell, Jason D, Flanagan
Rok vydání:	2015
Předmět:	Male Cachexia Fetal Growth Retardation Infant Newborn Facies Nuclear Proteins Trisomy Methyltransferases Skin Diseases Anorexia Diagnosis Differential Fatal Outcome Humans Eye Abnormalities Psychomotor Disorders Chromosomes Human Pair 18 Trisomy 18 Syndrome
Zdroj:	South Dakota medicine : the journal of the South Dakota State Medical Association. 68(2)
ISSN:	0038-3317
Popis:	Bowen-Conradi syndrome (BCS) is a common lethal condition amongst infants of Hutterite ancestry. We describe a newborn infant with features of BCS, which may mimic trisomy 18 and other conditions such as cerebro-oculo-facial syndrome (COFS) and CHARGE syndrome. We describe the constellation of clinical findings in BCS. We believe this is the first case of BCS clinically confirmed by molecular testing for mutation in the EMG1 gene.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::0c20104110a43af5cce8e70983bd6b99 https://pubmed.ncbi.nlm.nih.gov/25799636 Zobrazit plný text záznamu