Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome.
We describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal lymphangiectasia, hypertrophied 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. The syndrome was first delineated by Urioste and co-workers [1993: Am J Med Genet 47:494-503]. These cases confirm the existence of a definite and distinct entity.
Bellini
C
C
Servizio di Patologia Neonatale, Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Largo G. Gasslini 5, 16147 Genoa, Italy. carlobellini@ospedale.gaslini.ge.it
Bonioli
E
E
Josso
N
N
Belville
C
C
Mazzella
M
M
Costabel
S
S
Sementa
A R
AR
Marino
C E
CE
Tomà
P
P
Hennekam
R C
RC
Serra
G
G
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008201:Lymphangiectasis, Intestinal / Q000235:genetics* / Q000473:pathology; D009095:Mullerian Ducts / Q000002:abnormalities*; D013577:Syndrome