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Teebi hypertelorism syndrome with tetralogy of Fallot. 1998

M Nakagawa, and M Kondo, and A Matsui
Department of Pediatrics, Shiga University of Medicine Science, Seta, Ohtsu, Japan. masao@belle.shiga-med.ac.jp

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.

UI MeSH Term Description Entries
D006972 Hypertelorism Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid. Hypertelorisms
D008297 Male Males
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005094 Exophthalmos Abnormal protrusion of both eyes; may be caused by endocrine gland malfunction, malignancy, injury, or paralysis of the extrinsic muscles of the eye. Proptosis,Proptoses
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D013771 Tetralogy of Fallot A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS. Fallot's Tetralogy,Tetralogy, Fallot's,Fallot Tetralogy,Fallots Tetralogy,Tetralogy, Fallot,Tetralogy, Fallots
D019465 Craniofacial Abnormalities Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. Abnormalities, Craniofacial,Abnormality, Craniofacial,Craniofacial Abnormality

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