Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical, and pathological findings.
We report a case of Neu-Laxova syndrome in a fetus at 22 weeks with the ultrasonographic findings of characteristic facial findings, limb contractures, kyphosis and polyhydramnios. Pathological and ultrasonographic studies are discussed.
Mihci
Ercan
E
Department of Pediatric Medical Genetics, Akdeniz University School of Medicine, Antalya, Turkey.
Simsek
Mehmet
M
Mendilcioglu
Inanc
I
Tacoy
Sukran
S
Karaveli
Seyda
S
D000293:Adolescent; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000473:pathology; D007738:Kyphosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D006831:Polyhydramnios / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D011247:Pregnancy; D013577:Syndrome; D014463:Ultrasonography