PEDIATRICS Vol. 47 No. 3 March 1971, pp. 610-612
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A Lethal Syndrome of Microcephaly with Multiple Congenital Anomalies in Three Siblings

Richard L. Neu M.S.1, Tadashi Kajii M.D.1, Lytt I. Gardner M.D.2, Stephen F. Nagyfy M.D.3, and Saddie King B.A.4

1 Laboratory of Embryology and Cytogenetics, University Clinic of Obstetrics and Gynecology, Geneva, Switzerland
2 750 E. Adams Street, Syracuse, New York 13210
3 15 Crestmont Road, Binghamton, New York
4 Genetics and Endocrine Unit, Department of Pediatrics, State University of New York, Upstate Medical Center, Syracuse, New York 13210, Charles S. Wilson Memorial Hospital Johnson City, New York

The clinical findings are described in three siblings with a syndrome of microcephaly and multiple congenital abnormalities. All three infants had congenital anomalies of the limbs, described as flexion deformities. Infant 2 showed atrophic gyri and absence of the corpus callosum, with atrophy of cerebrum, cerebellum, and pons. Infant 2 exhibited unusual canine facies. Chromosomal studies were normal on infant 3 (leucocyte and skin cultures). Leucocyte cultures from the mother and father revealed no cytogenetic abnormality.