Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome

American Journal of Medical Genetics

Volumn 104, Issue 1, 2001, Pages 69-74

  Bellini, Carlo ^a   Bonioli, Eugenio ^a   Josso, Nathalie ^b   Belville, Corinne ^b   Mazzella, Massimo ^a   Costabel, Simona ^a   Sementa, Angela Rita ^c   Marino, Carla Enrica ^c   Tomà, Paolo ^c   Hennekam, Raoul C M ^d   Serra, Giovanni ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b ECOLE NORMALE SUPÉRIEURE   (France)

^c G GASLINI INSTITUTE   (Italy)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Intestinal lymphangiectasia; Persistence of M llerian duct remnants; Urioste syndrome

Indexed keywords

ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONGENITAL MALFORMATION; HUMAN; HUMAN TISSUE; INTESTINE LYMPHANGIECTASIA; MALE; MUELLERIAN DUCT; NEWBORN; PRIORITY JOURNAL; RESPIRATORY TRACT MALFORMATION; URIOSTE SYNDROME; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; ADULT; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; LYMPHANGIECTASIS, INTESTINAL; MULLERIAN DUCTS; SYNDROME;

FALLOPIA; GENETTA;

EID: 0035889333     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1599     Document Type: Article

References (7)

1. Persistence of Müllerian derivatives in males
2. Smith-Lemli-Opitz syndrome-Type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
3. Autosomal recessive intestinal lymphangiectasia and lymphedema with facial anomalies and mental retardation
4. Persistent Müllerian duct remnant in a newborn
5. Review: The Smith-Lemli-Opitz syndrome
6. A 46, XY infant with uterus, dysgenetic gonads, and multiple anomalies
7. Persistence of Müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies