Bird L M, Newbury R O, Ruiz-Velasco R, Jones M C
Division of Genetics, Children's Hospital and Health Center, San Diego, California 92123.
Am J Med Genet. 1994 Oct 15;53(1):33-8. doi: 10.1002/ajmg.1320530108.
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.
