title: Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites.
abstract: 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.
authors: Nic
authors: N
authors: Torbert
authors: Suzanne
authors: S
authors: Reuter
authors: Angela
authors: A
authors: Myers
authors: Kristen
authors: K
authors: De Berg
authors: Patricia L
authors: PL
authors: Crotwell
authors: Jason D
authors: JD
authors: Flanagan
mesh_terms: D000855:Anorexia; D002100:Cachexia; D002887:Chromosomes, Human, Pair 18; D003937:Diagnosis, Differential; D005124:Eye Abnormalities; D019066:Facies; D017809:Fatal Outcome; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008780:Methyltransferases / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D011596:Psychomotor Disorders / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D012871:Skin Diseases; D014314:Trisomy; D000073842:Trisomy 18 Syndrome
chemical_list: D009687:Nuclear Proteins; C549212:EMG1 protein, human; D008780:Methyltransferases