Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance.

Two first cousins, the offspring of consanguineous marriages, had features suggestive of Marden-Walker syndrome. Phenotypic similarities and differences for Schwartz-Jampel syndrome have been discussed. Main features of the Marden-Walker syndrome are failure to thrive, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly. Peculiar facies is due to blepharophimosis, congenital ptosis, hypoplastic mandible and low-set and malformed ears. Posterior median cleft of the palate as well as cardiac and renal anomalies were noted in the case reported by Marden and Walker. Our Case 2 had dextrocardia. The present report suggests autosomal recessive inheritance of this syndrome.

Limb malformations in the cloverleaf skull anomaly.

An Egyptian child with the rare cloverleaf skull anomaly had associated limb malformations which suggested that he had the Pfeiffer syndrome with severe skull involvement. The cloverleaf skull is an anomaly which may occur as a part of several syndromes. Careful study of skeletal changes, particularly limb malformations, may be the clue to the different syndromes with which cloverleaf skull may be associated.

Cornelia de Lange syndrome in an Egyptian child.

PIP: A case report of Cornelia de Lange syndrome in a male infant born to a woman who had been taking oral contraceptives for 18 months prior to the pregnancy, and had inadvertently taken 6 pills during the 1st month of pregnancy, is presented. The facies in the Cornelia de Lange syndrome are considered as diagnostic as those in Mongolism or Down Syndrome. Since the parents were not related by birth, the occurrence of this rare malformation in a population of high consanguinity may be evidence against an autosomal recessive etiology. The genetic etiology of the syndrome has not yet been defined.^ieng