Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies.
We describe 3 unrelated newborn males with a previously unreported constellation of congenital anomalies. All 3 died neonatally of hepatic failure. Clinically, they presented with a pattern of malformations characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, and postaxial polydactyly. All 3 cases had male external genitalia with cryptorchidism, and 2 of them, a small penis. Necropsies showed similar internal anomalies, consisting of müllerian duct remnants, lymphangiectasis, and renal anomalies. The karyotypes were normal (46, XY) in skin fibroblasts (Case 1) and in peripheral blood lymphocytes (Case 3). Although this pattern of congenital anomalies must be differentiated from several other lethal syndromes, to our knowledge, no similar cases have been described previously. Cause of this syndrome is unknown. Because Case 2 had a previous brother with similar anomalies, we suspect that this new entity probably is an autosomal recessive or X-linked trait.
Urioste
M
M
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Rodríguez
J I
JI
Barcia
J M
JM
Martín
M
M
Escribá
R
R
Pardo
M
M
Camino
J
J
Martínez-Frías
M L
ML
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D017093:Liver Failure / Q000235:genetics; D008200:Lymphangiectasis / Q000235:genetics; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities; D017689:Polydactyly / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013577:Syndrome