| Literature DB >> 2732996 |
Abstract
Two sibs with a similar pattern of unusual facial features, limb malformations, and postnatal onset of ichthyosis are reported. The parents are first cousins and neither shows any stigmata of the disorder. The presence of ichthyosis suggests that there may be a metabolic component to this syndrome. In view of the consanguinity and pattern of the malformations, autosomal recessive inheritance seems likely.Entities:
Mesh:
Year: 1989 PMID: 2732996 PMCID: PMC1015604 DOI: 10.1136/jmg.26.5.339
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318