| 201310 | |||||||||
| ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE | |||||||||
| Clinical Synopsis | |||||||||
| TEXT | |||||||||
| Miltenyi et al. (1992) described a brother and sister with tetraectrodactyly and oligomeganephronic renal hypoplasia. Miltenyi et al. (1984) described a brother who died at the age of 27 months of renal insufficiency. Five years later the mother gave birth to a girl with the same disorder. The girl required chronic peritoneal dialysis after the age of 4 years. Her feet showed typical lobster claw deformity. On both hands, only the fourth and fifth fingers were present with clinodactyly of the latter one. Akl (1994) described a 4-year-old boy who had chronic renal failure secondary to focal segmental glomerular sclerosis as well as abnormalities of the right hand. The parents were first cousins. A female sib, 1 year of age, and a 1-year-old male first cousin had chronic renal failure; neither had hand abnormalities. The fathers, who were brothers, married their first cousins, who were sisters. | |||||||||
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