Nakagawa M, Kondo M, Matsui A
Department of Pediatrics, Shiga University of Medicine Science, Seta, Ohtsu, Japan.
Am J Med Genet. 1998 Jun 5;77(5):345-7. doi: 10.1002/(sici)1096-8628(19980605)77:5<345::aid-ajmg1>3.0.co;2-m.
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.
一名34个月大的男孩出现了特比眼距增宽综合征的临床表现，包括前额突出伴额隆凸、眼距增宽、因眼眶浅而导致的眼球突出、短而宽的鼻子伴鼻孔前倾、有指蹼的小手和小脚、脐疝以及阴囊象皮肿。此外，他还有此前未描述过的表现，包括法洛四联症、双侧腹股沟睾丸和阴囊裂。他表型正常的母亲在孕期出现了大阴唇张开的情况，这可能是该综合征的一种表现。
