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 Torbert, Suzanne Reuter, Angela Myers, Kristen De Berg, Patricia L Crotwell, Jason D Flanagan
• Journal: South Dakota medicine : the journal of the South Dakota State Medical Association (S D Med) Vol. 68 Issue 2 Pg. 65-7, 69 (Feb 2015) ISSN: 0038-3317 [Print] United States
• PMID: 25799636 (Publication Type: Case Reports, Journal Article)

Chemical References

• Nuclear Proteins
• EMG1 protein, human
• Methyltransferases

Topics

• Anorexia
• Cachexia
• Chromosomes, Human, Pair 18
• Diagnosis, Differential
• Eye Abnormalities
• Facies
• Fatal Outcome
• Fetal Growth Retardation (diagnosis, ethnology, genetics)
• Humans
• Infant, Newborn
• Male
• Methyltransferases (genetics)
• Nuclear Proteins (genetics)
• Psychomotor Disorders (diagnosis, ethnology, genetics)
• Skin Diseases
• Trisomy
• Trisomy 18 Syndrome