Mental retardation associated with cardiac and limb
Camptodactyly Fibrous Tissue Hyperplasia Skeletal
Extremely rare (two sisters and
a brother); autosomal recessive.
Features include expressionless face with broad
nose and flared nares, limb anomalies (camptodactyly, arachnodactyly of
fingers and toes, clawhand, hammertoes, large hands), mental retardation,
fibrous tissue hyperplasia, and scoliosis. Patent ductus arteriosus
was present in the boy.
Involvement warrants thorough
cardiovascular evaluation. Vascular access may be difficult due to the anatomical
Goodman RM, Katznelson MB, Manor E: Camptodactyly: Occurrence in two new
genetic syndromes and its relationship to other syndromes. J Med Genet 9:203,