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Jansen type of spondylometaphyseal dysplasia

✍ Scribed by J. B. Campbell; Kazimierz Kozlowski; Tadeusz Lejman; J. Sulko


Book ID
105961119
Publisher
Springer
Year
2000
Tongue
English
Weight
170 KB
Volume
29
Category
Article
ISSN
0364-2348

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πŸ“œ SIMILAR VOLUMES


Spondylometaphyseal dysplasia, sedaghati
✍ Peeden, J. N. ;Rimoin, D. L. ;Lachman, R. S. ;Dyer, M. L. ;Gerard, D. ;Gruber, H πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 729 KB
Spondylometaphyseal dysplasia-sedaghatia
✍ ElοΏ½ioglu, Nursel; Hall, Christine M. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 34 KB πŸ‘ 1 views

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.

Spondylometaphyseal dysplasia: Sedaghati
✍ Koutouby, Ayman; Habibullah, Javed; Moinuddin, Faquih Arif πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 28 KB πŸ‘ 1 views

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

A rare form of spondylometaphyseal dyspl
✍ Duetting, T.; Schulze, A.; Troeger, J.; Spranger, J. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 29 KB πŸ‘ 1 views

We present 2 cases of a previously apparently unreported spondylo-metaphyseal dysplasia comprising dwarfism, severe metaphyseal changes, ovoid vertebrae and mild platyspondyly with anterior tonguing of the vertebral bodies. The inheritance may be autosomal recessive.