Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II

We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidism, generalized hypotonia, and tendon retraction....

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Detalles Bibliográficos
Autores principales: Petraroli, Maddalena, Percesepe, Antonio, Piane, Maria, Ormitti, Francesca, Castellone, Eleonora, Gnocchi, Margherita, Messina, Giulia, Bernardi, Luca, Patianna, Viviana Dora, Esposito, Susanna Maria Roberta, Street, Maria Elisabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10206130/
https://www.ncbi.nlm.nih.gov/pubmed/37234811
http://dx.doi.org/10.3389/fendo.2023.1018441

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10206130/
https://www.ncbi.nlm.nih.gov/pubmed/37234811
http://dx.doi.org/10.3389/fendo.2023.1018441

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