Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant

A full-term male infant born from consanguineous Saudi parents, with one other live child, is suspected to have skeletal dysplasia on a fetal anomaly scan. Clinical findings at birth included short stature, bowed long bone affecting the lower limbs more than the upper limbs, severe joint contracture...

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Detalles Bibliográficos
Autores principales: Alallah, Jubara, Alamoudi, Loujen Omar, Makki, Reham Mohmmed, Shawli, Aiman, AlHarbi, Alaa T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9152555/
https://www.ncbi.nlm.nih.gov/pubmed/35663789
http://dx.doi.org/10.1016/j.ijpam.2021.10.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9152555/
https://www.ncbi.nlm.nih.gov/pubmed/35663789
http://dx.doi.org/10.1016/j.ijpam.2021.10.002

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