RT Journal Article
SR Electronic
T1 A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 339
OP 342
DO 10.1136/jmg.26.5.339
VO 26
IS 5
A1 Clayton-Smith, J
A1 Donnai, D
YR 1989
UL http://jmg.bmj.com/content/26/5/339.abstract
AB 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.