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Am J Med Genet. 1993 Mar 1;45(5):614-8.

Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect.

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  • 1Department of Pediatrics, Pennsylvania State University Children's Hospital, Milton S. Hershey Medical Center, Hershey 17033.

Abstract

Neurologic abnormalities have been described only once previously in a child with Weissenbacher-Zweymüller syndrome (WZS), a rare skeletal dysplasia, evident neonatally. We report on identical twin male infants with skeletal findings typical of WZS, including small size at birth, proximal limb shortness, mid face hypoplasia, and myopia. In addition, twin B had a parieto occipital encephalocele while twin A had a meningocele at the same location. Twin B has had significant delays in development and hearing loss.

PMID:
8456835
[PubMed - indexed for MEDLINE]
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