Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Ariel F MartinezMaximilian Muenke

Abstract

Nonchromosomal, nonsyndromic holoprosencephaly (NCNS-HPE) has traditionally been considered as a condition of brain and craniofacial maldevelopment. In this review, we present the results of a comprehensive literature search supporting a wide spectrum of extracephalic manifestations identified in patients with NCNS-HPE. These manifestations have been described in case reports and in large cohorts of patients with "single-gene" mutations, suggesting that the NCNS-HPE phenotype can be more complex than traditionally thought. Likely, a complex network of interacting genetic variants and environmental factors is responsible for these systemic abnormalities that deviate from the usual brain and craniofacial findings in NCNS-HPE. In addition to the systemic consequences of pituitary dysfunction (as a direct result of brain midline defects), here we describe a number of extracephalic findings of NCNS-HPE affecting various organ systems. It is our goal to provide a guide of extracephalic features for clinicians given the important clinical implications of these manifestations for the management and care of patients with HPE and their mutation-positive relatives. The health risks associated with some manifestations (e.g., fatty liver di...Continue Reading

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Citations

Feb 6, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Cedrik Tekendo-NgongangPaul Kruszka
Apr 7, 2021·Journal of Medical Genetics·Ichrak DrissiGeoff Woods

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