We describe a male patient born to consanguineous parents with a syndrome of tall stature at birth, hypotonia, wrist drop and long spindle shaped fingers. The clinical features are identical to those previously described in three cases from a single family by Nevoet al.(1974: J Med Genet 11: 158ndash;165). Autosomal recessive inheritance is supported by consanguinity in our case. Follow-up at age 3 years demonstrated significant improvement of hypotonia and motor function, and normal cognitive ability.
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