A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
- 1 May 1989
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (5) , 339-342
- https://doi.org/10.1136/jmg.26.5.339
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.Keywords
This publication has 5 references indexed in Scilit:
- Failure to thrive presenting with an unusual skin rashThe Journal of Pediatrics, 1985
- Ichthyosis and neutral lipid storage diseaseAmerican Journal of Medical Genetics, 1985
- Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations.1983
- Familial Hirschsprung's Disease and Type D Brachydactyly: A Report of Four Affected Males in Two GenerationsPediatrics, 1983
- A syndrom characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduriaThe Journal of Pediatrics, 1973