New syndrome in three affected siblings

J. P. Crane, R. L. Heise

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)235-237
Number of pages3
JournalPediatrics
Volume68
Issue number2
StatePublished - Jan 1 1981

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    Crane, J. P., & Heise, R. L. (1981). New syndrome in three affected siblings. Pediatrics, 68(2), 235-237.