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Spondylometaphyseal dysplasia: Sedaghatian type

✍ Scribed by Koutouby, Ayman; Habibullah, Javed; Moinuddin, Faquih Arif

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 28 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000131)90:3<199::aid-ajmg4>3.0.co;2-i

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✦ Synopsis

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 161 days. This reported case was thoroughly investigated for serum calcium, magnesium, zinc, ammonia, phosphate level, alkaline phosphatase, parathormone level, liver and renal function test, TORCH, metabolic screening, skeletal survey, chromosomal studies, muscle enzymes, EEG, computed tomography scan, and magnetic resonance imaging (brain). Genomic DNA analysis of patient and parents were sent to the Faculty de Medicine Xavier Bichat, France, but yet abnormal gene could not be detected.

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