J Med Genet. Mar 1974; 11(1): 35–40.
Genetic Heterogeneity of Cebocephaly
Genetics Unit, Children's Service and the James Homer Wright Memorial Laboratories, Boston, USA
Department of Pathology at the Massachusetts General Hospital, Boston, USA
The Department of Pathology of the Boston Hospital for Women, Boston, USA
The Department of Pediatrics, Boston, USA
The Department of Pathology, Boston, USA
Center for Human Genetics of Harvard Medical School, Boston, USA
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.
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