Teebi hypertelorism syndrome: further observations.
A new autosomal dominant syndrome resembling craniofrontonasal syndrome was identified by Teebi [1987: Am J Med Genet 28:581-591]. We report on an additional case of Teebi hypertelorism syndrome. A 6-year-old girl presented with brachycephaly, peculiar facial appearance resembling mild frontonasal "dysplasia", small hands and feet with interdigital webbing. In addition, she had previously undescribed manifestations including ventricular septal defect, lipoma of the occipital area, and hypoplastic left hemisphere of the cerebellum. These seem to expand the phenotype of Teebi hypertelorism syndrome. The proposita's father had mild manifestations of the condition including flat occiput, widow's peak, small ears, bulbous nose, brachydactyly with interdigital webbing, and mild shawl scrotum.
Tsukahara
M
M
Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
Uchida
M
M
Shinohara
T
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D005190:Family; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome