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Genetic Heterogeneity of Cebocephaly
  1. Lewis B. Holmes,
  2. Shirley Driscoll,
  3. Leonard Atkins
  1. Genetics Unit, Children's Service and the James Homer Wright Memorial Laboratories, Boston, USA
  2. Department of Pathology at the Massachusetts General Hospital, Boston, USA
  3. The Department of Pathology of the Boston Hospital for Women, Boston, USA
  4. The Department of Pediatrics, Boston, USA
  5. The Department of Pathology, Boston, USA
  6. Center for Human Genetics of Harvard Medical School, Boston, USA

    Abstract

    Three infants with cebocephaly with entirely different aetiologies are described: one possibly representing the effect of a single mutant gene, one with apparent E trisomy, and one with D trisomy. In comparison with other reported patients, it is likely that infants with cebocephaly and no associated chromosomal abnormality have few, if any, extracranial malformations.

    https://doi.org/10.1136/jmg.11.1.35

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