✦ LIBER ✦
Unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonomacrocephaly with a note on “developmental resistance”
✍ Scribed by Wiedemann, Hans-Rudolf ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 335 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We report a boy with predominantly unilateral severe tibia defect with a high grade of preaxial polydactyly . Family history suggests the possibility of autosomal dominant inheritance with reduced penetrance and quite variable expressivity . The boy's phenotype and other previously reported examples of predominantly unilateral involvement in autosomal dominant and autosomal recessive limb mutations strongly suggest a hypothesis of developmental resistance in the uninvolved parts.