PT  - JOURNAL ARTICLE
AU  - Clayton-Smith, J
AU  - Donnai, D
TI  - A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
AID  - 10.1136/jmg.26.5.339
DP  - 1989 May 01
TA  - Journal of Medical Genetics
PG  - 339--342
VI  - 26
IP  - 5
4099  - http://jmg.bmj.com/content/26/5/339.short
4100  - http://jmg.bmj.com/content/26/5/339.full
SO  - J Med Genet1989 May 01; 26
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.