A new recessive syndrome of unusual facies and multiple structural abnormalities.
case_report · Level V
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- Record sourced from PubMed, PMID 1956065.
- Also identified by PMC identifier 1015797.
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Abstract
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.
Medical subject headings
- Abnormalities, Multiple
- Face
- Muscular Atrophy