Alobar holoprosencephaly associated with cebocephaly and craniosynostosis.
Cebocephaly is a very rare congenital midline facial anomaly characterized by a blind-ended single nostril and ocular hypotelorism, and is usually combined with alobar holoprosencephaly. We report here a case of alobar holoprosencephaly with cebocephaly and craniosynostosis. Chromosomal analysis revealed normal karyotyping. The facial dysmorphism was characterized by the single nostril, hypotelorism, absence of philtrum and small head girth. The failure of cleavage of the prosencephalon and the fusion of all cranial sutures except for the sagittal suture were documented by computed tomography (CT) and magnetic resonance image (MRI). Early detection by the prenatal ultrasound examination is important because of poor prognosis of alobar holoprosencephaly.
Lin
Chien-Heng
CH
Department of Pediatrics, Jen-Ai Hospital, Taichung, Taiwan.
Tsai
Jeng-Dau
JD
Ho
Yung-Jen
YJ
Lin
Wei-Ching
WC
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000150:complications*; D003398:Craniosynostoses / Q000150:complications*; D005260:Female; D016142:Holoprosencephaly / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D014057:Tomography, X-Ray Computed