PEDIATRICS Vol. 68 No. 2 August 1981, pp. 235-237
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New Syndrome in Three Affected Siblings

James P. Crane MD1 and Robin L. Heise MD1

1 Genetics Unit, Department of Obstetrics and Gynecology, Washington University School of Medicine, St Louis

A previously undescribed syndrome is reported. Major features include: (1) poorly mineralized calvarium, (2) dysmorphic facies (cleft lip and palate, micrognathia, upturned nares, apparent ocular hypertelorism), and (3) extracranial musculoskeletal anomalies (absence of cervical vertebrae and clavicles, talipes equinovarus, and soft tissue syndactyly). Autosomal recessive inheritance is the most likely mode of transmission. Prenatal diagnosis via ultrasonography was successful in two fetuses at risk.

Submitted on August 25, 1980
Accepted on December 10, 1980




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