Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patients
✍ Scribed by Lowry, R. Brian; Wesenberg, Richard L.; Hall, Judith G.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 43 KB
- Volume
- 63
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We report on two unrelated patietns with an apparently new syndrome. In each family they are the only affected members, their parents are not consanguineous, and paternal and maternal ages are not advanced.
At birth each patient was noted to have a marked Robin phenotype (cleft of the secondary palate and micrognathia) plus rhizomelic shortness. Delay in the appearance of long bone epiphyses was noted and followed by small fragmented and later very flat epiphyses of all long bones. The fibulae are short and radial heads dislocated. Scoliosis and marked genu valgum developed in both. Both patients have normal intelligence, vision, and hearing. Both have mildly upward slanting palpebral fissures, broad nasal tip, and apparent hypertelorism. 01996