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Stuve-Wiedemann syndrome with a novel mutation
We describe a female infant born at term to consanguineous parents, with a suspicion of skeletal dysplasia in utero. At birth, she had short limbs, camptodactyly, dysphagia leading to nasogastric tube feeds, and skeletal survey demonstrating dysplasia of long bones and spine. During infancy, she als...
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| Pubblicato in: | BMJ Case Rep |
|---|---|
| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Publishing Group
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4693133/ https://ncbi.nlm.nih.gov/pubmed/26323980 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2015-212032 |
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