X‐linked midline defects
- 1 May 1985
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 21 (1) , 143-146
- https://doi.org/10.1002/ajmg.1320210121
Abstract
Opitz and Gilbert [Am J Med Genet 12:443–455, 1982] have postulated that the midline may be a kind of developmental field. Although developmental field defects (primary malformations) usually occur sporadically, in some instances they can be caused by a single gene mutation. We report on a family in which the occurrence of midline defects was consistent with X‐linked inheritance. Anomalies present in the family include hydrocephalus, anencephaly, cleft lip, congenital heart defect, renal agenesis, and hypospadias.Keywords
This publication has 12 references indexed in Scilit:
- Familial congenital diaphragmatic defects: Aspects of etiology, prenatal diagnosis, and treatmentAmerican Journal of Medical Genetics, 1984
- Occurrence of neural tube defects among first-, second-, and third-degree relatives of probands: Results of a United States studyAmerican Journal of Medical Genetics, 1983
- An update on the holoprosencephalic disordersThe Journal of Pediatrics, 1982
- CNS anomalies and the midline as a “developmental field”American Journal of Medical Genetics, 1982
- INCREASED FREQUENCY OF NEURAL TUBE DEFECTS IN SIBS OF CHILDREN WITH OTHER MALFORMATIONSThe Lancet, 1982
- Occurrence of cyclopia, myelomeningocele, deafness, and abducens paralysis in siblingsAmerican Journal of Medical Genetics, 1982
- Schisis‐associationAmerican Journal of Medical Genetics, 1981
- Familial congenital diaphragmatic hernia: Prenatal diagnostic approach and analysis of twelve familiesClinical Genetics, 1979
- A family study of renal agenesisJournal of Medical Genetics, 1979
- Sib risk of neural tube defect: is prenatal diagnosis indicated in pregnancies following the birth of a hydrocephalic child?Journal of Medical Genetics, 1979