A case of holoprosencephaly and cebocephaly associated to torch infection.
Cebocephaly is a very rare congenital anomaly combining a severe midline facial malformation and holoprosencephaly. Here we report on first case of cebocephaly with semilobar holoprosencephaly, hypotelorism, and a single nostril due to intrauterine TORCH infection (Toxoplasmosis, other [syphilis, varicella-zoster, parvovirus B19], Rubella, Cytomegalovirus [CMV], and Herpes infections) in the English language literature. Chromosomal analysis showed normal karyotyping.
Kilic
Nizamettin
N
Department of Paediatric Surgery, The Medical Faculty of Uludag University, 16059 Görükle, Bursa, Turkey. nizam@uludag.edu.tr
Yazici
Zeynep
Z
D000015:Abnormalities, Multiple / Q000209:etiology; D000328:Adult; D019465:Craniofacial Abnormalities / Q000209:etiology*; D003586:Cytomegalovirus Infections / Q000150:complications / Q000175:diagnosis; D017809:Fatal Outcome; D005260:Female; D006561:Herpes Simplex / Q000150:complications / Q000175:diagnosis; D016142:Holoprosencephaly / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000209:etiology; D009666:Nose / Q000002:abnormalities; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious / Q000175:diagnosis; D012409:Rubella / Q000150:complications / Q000175:diagnosis; D014057:Tomography, X-Ray Computed