Carpenter syndrome: natural history and clinical spectrum.
Recently, we evaluated three sibs with Carpenter syndrome, permitting further clinical, orthopedic, radiographic, and psychometric delineation of this disorder. All three patients were operated on for craniostenosis at or before 2 months. Although all had gross motor delay in early infancy, two had normal intelligence at 12 months and 10 years, respectively. Bony abnormalities contributed to functional impairment especially in the older children. Preaxial polydactyly of feet was present in all three affected sibs and in all other reported individuals with this condition, allowing differentiation of Carpenter syndrome from the other autosomal-recessive acrocephalopolysyndactyly syndromes.
D000293:Adolescent; D002648:Child; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome