Teebi hypertelorism syndrome with tetralogy of Fallot.
A 34-month-old boy presented with clinical manifestations of Teebi hypertelorism syndrome including prominent forehead with frontal bossing, hypertelorism, exophthalmos due to shallow orbits, a short and broad nose with anteverted nares, small hands and feet with interdigital webbing, umbilical hernia, and shawl scrotum. In addition, he had previously undescribed manifestations including tetralogy of Fallot, bilateral inguinal testes, and bifid scrotum. His phenotypically normal mother showed splayed labiae majora during her pregnancy, a possible manifestation of the syndrome.
Nakagawa
M
M
Department of Pediatrics, Shiga University of Medicine Science, Seta, Ohtsu, Japan. masao@belle.shiga-med.ac.jp
Kondo
M
M
Matsui
A
A
D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D005094:Exophthalmos / Q000235:genetics / Q000473:pathology; D006801:Humans; D006972:Hypertelorism / Q000235:genetics* / Q000473:pathology; D008297:Male; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000235:genetics* / Q000473:pathology