COFFIN-SIRIS SYNDROME IN A CHILD WITH CONSANGUINEOUS PARENTS

We report on a female patient born of consanguineous parents (first co usins) who presented short stature, hypotonia, joint laxity, delayed p sychomotor development, microcephaly, sparse scalp hair, retarded bone age, coarse lace, thick eyebrows, long eyelashes, hypertrichosis on t he back of the trunk, hypoplasia of distal phalanges of digits of the hands and feet, and hypoplastic fingernails of the fifth toe. These fi ndings are consistent with the Coffin-Siris syndrome, the etiology of which is not yet defined. The presence of parental consanguinity sugge sts autosomal recessive inheritance.