Holoprosencephaly, cephalothorax' appearance with multiple cardiac anomalies: a diagnostic challenge.
Holoprosencephaly is one of the rare types of craniofacial congenital anomaly characterized by failure of differentiation of the procencephalon to diencephalon and telencephalon derivatives that accompanied by variable degree of orbitofacial dysmorphism. The case presented to our hospital in the third trimester of pregnancy with intrauterine fetal death was diagnosed prior to delivery as hydrocephalus to rule out hydrops fetalis. Autopsy examination showed distinctive features of holoprosencephaly of severe type in conjunction with a large head fused with the thorax to appear as a spherical ball ('cephalothorax' nature) and multiple cardiac malformations but with normally differentiated upper and lower limbs, intestines, female reproductive system and kidneys. We are reporting this unusual case to remind clinicians to be conscious on partly preventable teratogens specific to this anomaly, and if failed to do so, to diagnose as early as possible and terminate the pregnancy through vaginal route, within all the provision of the law.
Berhan
Yifru
Y
Debub University, Faculty of Medicine, Department of Obstetrics and Gynaecology, e-mail yifrub@yahoo.com P.O.Box 1560, Awassa, Ethiopia. yifrub@yahoo.com
Yusuf
Lukman
L
Tiku
Fisseha
F
Schneider
Jakob
J
D000328:Adult; D018376:Cardiovascular Abnormalities / Q000175:diagnosis*; D003951:Diagnostic Errors; D005260:Female; D006257:Head / Q000002:abnormalities* / Q000473:pathology; D016142:Holoprosencephaly / Q000175:diagnosis*; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis; D011247:Pregnancy; D050497:Stillbirth; D013909:Thorax / Q000002:abnormalities* / Q000473:pathology