Title: Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study
Authors: Moerman, Philippe ×
Fryns, Jean-Pierre #
Issue Date: Jan-1998
Series Title: Genetic Counseling vol:9 issue:1 pages:39-43
Abstract: We present a 22-week male fetus with cleft lip and palate, lobulated tongue, talipes equinovarus, and polysyndactyly. In addition there was skeletal dysplasia with micromelia and short ribs. Autopsy revealed a cardiac anomaly (perimembranous VSD), very incomplete lobation of the lungs, mild congenital hepatic fibrosis, and segmental renal cystic dysplasia. Brain anomalies included internal hydrocephalus, olfactory aplasia, and agenesis of the corpus callosum. This constellation of multiple congenital anomalies is consistent with the oral-facial-digital syndrome (OFDS) type IV. OFDS type IV may be a heterogeneous condition. Our pathological findings confirm that at least some of these cases a transitional phenotype between OFDS type II (Mohr syndrome) and short rib polydactyly syndrome type II (Majewski syndrome).
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science