Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In such cases, a pregnancy may unexpectedly reveal hidden problems and special needs. A 28 year old primigravida was referred to us at 17 weeks for counselling with an...

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Autores principales: Bedeschi, Maria Francesca, Bianchi, Vera, Gentilin, Barbara, Colombo, Lorenzo, Natacci, Federica, Giglio, Sabrina, Andreucci, Elena, Trespidi, Laura, Acaia, Barbara, Furga, Andrea Superti, Lalatta, Faustina
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3058019/
https://ncbi.nlm.nih.gov/pubmed/21356074
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-7
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