A syndrome combining malformation of the urogenital tract with aplasia of the abdominal musculature. There is a congenital absence of muscles of the anterior abdominal wall, and the lax excessive skin of the abdomen looks like the wrinkled skin of a prune. Other features include persistent furrowlike umbilicus, cryptorchism; and other anomalies, including malrotation of the bowel, pigeon breast, hip dislocation, polydactyly, and heart defects. The male/female rate is 2: 2. The aetiology is unknown. Affected girls show only absence of abdominal muscles. About 20% are stillborn or die within first 4 weeks of life; 50% die within 2 years. Diagnosis can be made in utero by ultrasound by 21 weeks gestation. It can occur sporadically, as an X-linked transmission, associated with chromosomal abnormalities, and as a familial occurrence and is then associated with congenital deafness and mental retardation.
First described in 1839 by F. Fröhlich, Würzburg. Summarizing presentation in 1949 by W. Obrinsky.
- F. Fröhlich:
Der Mangel der Muskeln, insbesondere der Seitenbauchmuskeln.
Doctoral dissertation, Würzburg, 1839.
- W. Obrinsky:
Agenesis of abdominal muscles with associated malformations of the genitourinary tract. A clinical syndrome.
American Journal of Diseases of Children, Chicago, 1949, 77: 362-373.
- J. F. Eagle Jr, and G. S. Barrett; Jr:
Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: a syndrome; Reort of nine cases.
Pediatrics, Evanston, Illinois, 1950, 6 (5): 721-736.