X-linked midline defects.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000757:Anencephaly / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007021:Hypospadias / Q000235:genetics; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D014960:X Chromosome