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pubmed:abstractText |
We report on sibs of both sexes with a multiple malformation syndrome of cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers. The older boy died in a tonic extension spasm at age 4 months. When discharged, the younger girl was 3.5 months old. This appears to be an autosomal recessive syndrome which to our knowledge has not been described before.
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pubmed:articleTitle |
Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes.
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