Literature DB >> 6807090

Occurrence of cyclopia, myelomeningocele, deafness, and abducens paralysis in siblings.

U Burck, K R Held, H J Kitschke.   

Abstract

As holoprosencephaly without chromosome defect may be associated with other CNS-related anomalies such as mental retardation, mental illness, facial paralysis, endocrine disorders, deafness, spina bifida, and myelomeningocele, we present a family in which one girl had a myelomeningocele, a brother had orbital hypotelorism, facial and cerebral asymmetries, cerebral palsy, abducens paralysis, and inner ear deafness. A 3rd pregnancy was terminated at 16 weeks; the fetus had cyclopia. A common cause is discussed in these cases and in those families in which holoprosencephaly and additional malformations occur among different generations.

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Year:  1982        PMID: 6807090     DOI: 10.1002/ajmg.1320110409

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Holoprosencephaly: a family showing dominant inheritance and variable expression.

Authors:  A L Collins; P W Lunt; C Garrett; N R Dennis
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

  1 in total

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