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

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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Bibliographic Details
Main Authors: Maddalena Petraroli, Antonio Percesepe, Maria Piane, Francesca Ormitti, Eleonora Castellone, Margherita Gnocchi, Giulia Messina, Luca Bernardi, Viviana Dora Patianna, Susanna Maria Roberta Esposito, Maria Elisabeth Street
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Endocrinology
Subjects:
growth
microcephalic osteodysplastic primordial dwarfism
cerebral aneurysms
bone dysplasia
short stature
PCNT gene
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1018441/full

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https://www.frontiersin.org/articles/10.3389/fendo.2023.1018441/full

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