New syndrome in three affected siblings

J. P. Crane, R. L. Heise

    Research output: Contribution to journalArticlepeer-review

    20 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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