Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly

Clinical Features

Urioste et al. (1993) reported the cases of 3 unrelated newborn males with a previously unreported constellation of congenital anomalies. They presented with prenatal growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, and postaxial polydactyly. All had male external genitalia with cryptorchidism, and 2 of them had a small penis. Necropsies showed similar internal anomalies: mullerian duct remnants, lymphangiectasia, and renal anomalies. The karyotype was normal (46,XY) in skin fibroblasts and peripheral blood lymphocytes. Because one of the patients had a previously born brother with similar anomalies, Urioste et al. (1993) suspected that this new entity represented either an autosomal recessive or an X-linked disorder. One of the infants showed a prostate, histologically normal, around the neck of the bladder, a uterus and fallopian tubes, both histologically well developed, and an atretic vagina. The testes were attached at the end of the fallopian tubes. The parents were nonconsanguineous in each case. One patient died at 17 days, the second at the fourth month of life, and the third at 54 days of life. All had hypoproteinemia. One of the patients had intestinal lymphangiectasia, and another had lymphangiectasia of the thyroid, pancreas, and lungs. The third patient had protein-losing enteropathy. In all, death was attributed to hepatic failure. The evidence for this was not provided; the hypoproteinemia was presumably due to protein-losing enteropathy.

Van Haelst et al. (2001) reported a sibship with protein-losing enteropathy related to intestinal lymphangiectasia, a peculiar face, and genital anomalies. The first sib was born with a protein-losing enteropathy, craniofacial anomalies, and renal defects. At 1 year of age, she died of severe complications of the protein-losing enteropathy and respiratory distress. Her brother was a cytogenetically normal male fetus identified by prenatal ultrasound at 19 weeks with similar anomalies. The pregnancy was terminated at 20 weeks. Autopsy showed mullerian duct remnants. These cases were thought to confirm the Urioste syndrome. Although the syndrome had previously been reported only in 46,XY individuals, this report of a consanguineous family with an affected sibship of both sexes suggested it is an autosomal recessive entity.

Bellini et al. (2001) described 2 newborn brothers with persistence of mullerian duct derivatives, intestinal lymphangiectasia, hypertrophied dental alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lymphangiectasia.

Inheritance

Urioste et al. (1993) suggested autosomal recessive or X-linked inheritance of this disorder.