XK aprosencephaly.
We report a baby with aprosencephaly, preaxial limb defect and ambiguous genitalia. This combination of abnormalities have been reported previously and constitute the XK aprosencephaly syndrome.
al-Gazali
L I
LI
Department of Paediatrics and Radiology, Faculty of Medicine & Health Sciences, UAE University, Al-Ain, United Arab Emirates.
Bakalinova
D
D
Bakir
M
M
Nath
K N
KN
D000015:Abnormalities, Multiple / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016548:Prosencephalon / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities; D014057:Tomography, X-Ray Computed