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Published on: November 4, 2015
Teebi hypertelorism syndrome: further observations
M Tsukahara1, M Uchida, T Shinohara
1Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
American Journal of Medical Genetics
|October 23, 1995
Summary
This study reports a new case of Teebi hypertelorism syndrome, detailing expanded clinical features. The findings contribute to understanding this rare autosomal dominant disorder.
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- Teebi hypertelorism syndrome is a rare autosomal dominant disorder.
- It shares similarities with craniofrontonasal syndrome.
Observation:
- A 6-year-old girl presented with brachycephaly, distinctive facial features, and limb abnormalities.
- She also exhibited previously unreported symptoms: ventricular septal defect, occipital lipoma, and cerebellar hypoplasia.
Findings:
- The case expands the known phenotypic spectrum of Teebi hypertelorism syndrome.
- The proposita's father displayed milder manifestations, including brachydactyly and shawl scrotum.
Implications:
- This case highlights the variability and broader clinical presentation of Teebi hypertelorism syndrome.
- Further research is needed to fully delineate the genetic and clinical characteristics of this syndrome.
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