Spondylometaphyseal dysplasia with hypercalcemia
β Scribed by A. Bagga; R. N. Srivastava; S. Gupta; A. Gupta
- Book ID
- 105557776
- Publisher
- Springer-Verlag
- Year
- 1989
- Tongue
- English
- Weight
- 646 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0301-0449
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π SIMILAR VOLUMES
We present the radiological findings in two unrelated cases with spondylometaphyseal dysplasia type Sedaghatian. We review the literature and identify additional anomalies including disproportionately long fibulae, dysharmonious maturation and turricephaly.
We report a case of spondylometaphyseal dysplasia in an infant who was born to nonconsanguineous Yemeni parents. Radiological findings were consistent with lethal metaphyseal chondrodysplasia (Sedaghatian type). Although all previously reported cases died within 4 days of life, our patient survived