Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy-Walker malformation. However, no anomalies in neural tube closure have been described in association with Poland Anomaly. Atretic cephalocele is another rare diagnosis, which is an involuted congenital herniation of intracranial contents through defects in the skull. Herein, we present the case of a child affected with Poland Anomaly in whom an atretic cephalocele has been diagnosed at the age of 2 months.

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Journal
American Journal of Medical Genetics Part A
Published
2025-07-26
DOI
https://doi.org/10.1002/ajmg.a.64197
Primary Topic
Pectus Deformity Diagnosis and Treatment
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article
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article

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

Silvia Pontesilli, Angelo Selicorni, Massimo Agosti, Laura Demelas et al.
American Journal of Medical Genetics Part A
Pectus Deformity Diagnosis and Treatment
article

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

Silvia Pontesilli, Angelo Selicorni, Massimo Agosti, Laura Demelas, Alessandra Greta Grassi, Francesca Vigliani
article en

Abstract

Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy-Walker malformation. However, no anomalies in neural tube closure have been described in association with Poland Anomaly. Atretic cephalocele is another rare diagnosis, which is an involuted congenital herniation of intracranial contents through defects in the skull. Herein, we present the case of a child affected with Poland Anomaly in whom an atretic cephalocele has been diagnosed at the age of 2 months.

American Journal of Medical Genetics Part AVol. 197(12)
University of Insubria (IT), University of Milan (IT), Ospedale Filippo Del Ponte Varese (IT), Ospedale Sant'Anna (IT)
Openalex Percentile: Top 69%
Pectus Deformity Diagnosis and Treatment
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Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association? — Silvia Pontesilli, Angelo Selicorni, et al. · American Journal of Medical Genetics Part A (2025) | TGRS Research Map | TGRS