Lerman-Sagie T, Merlob P, Shuper A, Kauli R, Kozokaro Z, Grunebaum M, Mimouni M
Department of Pediatrics B, Beilinson Medical Center, Petah Tiqva, Israel.
Am J Med Genet. 1990 Oct;37(2):241-3. doi: 10.1002/ajmg.1320370215.
We report on a boy with Dubowitz syndrome and hypoparathyroidism from which he recovered, only to redevelop it at 6 years. He also had a submucous cleft palate and cineradiographic studies showed velopharyngeal insufficiency. Although a submucous cleft palate is a well-known manifestation of Dubowitz syndrome, velopharyngeal insufficiency has not been previously described.
我们报告了一名患有杜波维茨综合征和甲状旁腺功能减退症的男孩,他曾从中康复,但在6岁时又复发。他还患有黏膜下腭裂,X线电影造影研究显示腭咽功能不全。虽然黏膜下腭裂是杜波维茨综合征的一种常见表现,但腭咽功能不全此前尚未有过描述。