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
Spondylometaphyseal dysplasia-sedaghatian type
✍ Scribed by El�ioglu, Nursel; Hall, Christine M.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 34 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980413)76:5<410::aid-ajmg8>3.0.co;2-q
No coin nor oath required. For personal study only.
✦ Synopsis
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.
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