A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
نویسندگان
چکیده
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.
منابع مشابه
A new recessive syndrome of unusual facies and multiple structural abnormalities.
Two sibs with a similar pattern of dysmorphic facial features and multiple structural abnormalities are reported. Both had a normal karyotype. The parents are first cousins and neither shows any stigmata of the disorder. In view of the consanguinity and pattern of malformations, autosomal recessive inheritance seems likely.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 26 5 شماره
صفحات -
تاریخ انتشار 1989