A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome?
We describe a syndrome of microcephaly, with extreme failure to thrive, (severe spasticity), kyphoscollosis, cataracts, and hip dysplasia in four siblings. The syndrome could be a new one, although it has several features resembling those described by Lowry et al. It is suggested that this syndrome is inherited as an autosomal-recessive condition.
D000328:Adult; D002386:Cataract / Q000235:genetics*; D005260:Female; D006618:Hip Dislocation, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007228:Infant Nutrition Disorders / Q000150:complications; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome