Frontonasal malformation and cloacal exstrophy: a previously unreported association.
We report on a child with frontonasal malformation (FNM) and cloacal exstrophy, a combination of findings that have not been reported previously. In FNM and cloacal exstrophy, associated malformations are rare. FNM and cloacal exstrophy both represent abnormalities of the development of the midline field; this combination of anomalies in this patient suggests an impairment of caudal and cranial midline development during blastogenesis.
Robin
N H
NH
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania, USA.
Neidich
J A
JA
Bason
L D
LD
Whitaker
L A
LA
McDonald-McGinn
D
D
Hunter
J
J
Snyder
H M
HM
Zackai
E H
EH
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002584:Cervix Uteri / Q000002:abnormalities; D002988:Cloaca / Q000002:abnormalities*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009666:Nose / Q000002:abnormalities*; D011859:Radiography; D012600:Scoliosis / Q000175:diagnosis; D013131:Spine / Q000000981:diagnostic imaging; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities