Apparent Malpuech syndrome: report on three Brazilian patients with additional signs

We report on 3 unrelated Brazilian patients with shortness of stature, hypertelorism, eye anomalies, facial clefting, hearing loss, urogenital abnormalities, omphalocele, "caudal appendage," and mental retardation. Two patients were born to normal and non-consanguineous parents and one was born to consanguineous (first cousin) parents (F = 1/16). The similarity of our patients with those previously reported by Malpuech et al. [Am J Med Genet 16:475-480, 1983] led us to suggest that they have the same condition.