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April 1968

Short Arm Deletion of Chromosome 18 in Cebocephaly

Author Affiliations

From the Division of Oral Pathology, School of Dentistry and the Dight Institute for Genetics, University of Minnesota, Minneapolis.

Am J Dis Child. 1968;115(4):473-476. doi:10.1001/archpedi.1968.02100010475012

THE holoprosencephalies form a spectrum of graded teratologic entities with cyclopia as the most extreme example. As a group, they exhibit anomalous development of the nose, mouth, eyes, ears, defective development of olfactory and optic structures, and impaired midline cleavage of the embryonic forebrain. In the extreme case, the cerebrum is a sphere with a single ventricle without corpus callosum or septum pellucidum. Most notable have been the studies of Goldstein,1 Yakovlev,2 and De Myer3,4 which have demonstrated that several median facial dysplasias exhibit the same brain alterations. Further interest was generated when it was shown that patients with trisomy D1 also exhibit many of these same changes. On the other hand, De Myer5 showed that infants having the same craniofacial stigmata but with few or trivial extracephalic malformations, had apparently normal karyotypes. Deletion of the short arm of chromosome 18 in cyclopia has been

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