Recurrence of diaphragmatic agenesis associated with multiple midline defects: evidence for an autosomal gene regulating the midline.
We report the familial occurrence of diaphragmatic agenesis in association with other midline anomalies in a brother and sister. Opitz and Gilbert [Am J Med Genet 1982, 12:443-455] introduced the concept of the midline as a developmental field, and there have been reports of pedigrees compatible with the hypothesis of an X-linked gene regulating the development of the midline. This family suggests that an autosomal gene also contributes to the morphogenesis of midline structures.
Bird
L M
LM
Division of Genetics, Children's Hospital and Health Center, San Diego, California 92123.
Newbury
R O
RO
Ruiz-Velasco
R
R
Jones
M C
MC
D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003964:Diaphragm / Q000002:abnormalities*; D004677:Encephalocele / Q000235:genetics; D005260:Female; D006554:Hernia, Umbilical / Q000235:genetics; D006801:Humans; D008297:Male; D009024:Morphogenesis / Q000235:genetics*; D009436:Neural Tube Defects / Q000235:genetics; D010375:Pedigree