A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis. Issue 5 (May 1989)

• Record Type: Journal Article
• Authors: Clayton-Smith, J; Donnai, D
• Is Part Of: Journal of medical genetics. Volume 26:Issue 5(1989)
• Page Start: 339
• Page End: 342
• Publication Date: 1989-05
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.26.5.339
• Languages: English
• ISSNs: 1468-6244

Abstract

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.