We describe a 5-4/12-year-old girl with the unique combination of bilateral radial ray hypoplasia and multiple epiphyseal dysplasia (MED). Radial ray hypoplasia was diagnosed at birth. MED was documented at age 4-3/12 years when she presented with leg pain and short stature and was found to have fem
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia
โ Scribed by Pierri, Nicola Brunetti; Lecora, Margherita; Passariello, Annalisa; Scala, Iris; Andria, Generoso
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 12 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000313)91:2<123::aid-ajmg8>3.0.co;2-n
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โฆ Synopsis
We report on a male patient with bilateral upper limb amelia, facial clefts, and bilateral renal hypoplasia. We compare the clinical findings in our patient with those of the other three similar cases reported. This is the first long-surviving patient described with this association of malformations. Am.
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