TY - JOUR
T1 - Lymphangiectasia with persistent müllerian derivatives
T2 - Confirmation of autosomal recessive Urioste syndrome
AU - Bellini, Carlo
AU - Bonioli, Eugenio
AU - Josso, Nathalie
AU - Belville, Corinne
AU - Mazzella, Massimo
AU - Costabel, Simona
AU - Sementa, Angela Rita
AU - Marino, Carla Enrica
AU - Tomà, Paolo
AU - Hennekam, R. C M
AU - Serra, Giovanni
PY - 2001/11/15
Y1 - 2001/11/15
N2 - We report on a sibship with protein-losing enteropathy related to intestinal lymphangiectasia, a peculiar face, and genital anomalies. The parents are distantly related and from Dutch ancestry. The first patient 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 müllerian duct remnants. These cases seem to confirm the Urioste syndrome [Urioste et al., 1993: Am J Med Genet 47:494-503]. Although it was previously only reported in 46,XY individuals, this report of a consanguineous family with an affected sibship of both sexes suggests it to be an autosomal recessive entity.
AB - We report on a sibship with protein-losing enteropathy related to intestinal lymphangiectasia, a peculiar face, and genital anomalies. The parents are distantly related and from Dutch ancestry. The first patient 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 müllerian duct remnants. These cases seem to confirm the Urioste syndrome [Urioste et al., 1993: Am J Med Genet 47:494-503]. Although it was previously only reported in 46,XY individuals, this report of a consanguineous family with an affected sibship of both sexes suggests it to be an autosomal recessive entity.
KW - Autosomal recessive inheritance
KW - Lymphangiectasia
KW - Lymphedema
KW - Persistent müllerian derivatives
KW - Urioste syndrome
UR - http://www.scopus.com/inward/record.url?scp=0035889369&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035889369&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1518
DO - 10.1002/ajmg.1518
M3 - Article
C2 - 11746030
AN - SCOPUS:0035889369
VL - 104
SP - 65
EP - 68
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -