Holoprosencephaly: A Guide to Diagnosis and Clinical Management.
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Date
2011-06
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Abstract
Context: Holoprosencephaly affects 1 in 8,000 live births and is the most common structural anomaly of the developing
forebrain, resulting in facial dysmorphism, neurologic impairment, and additional clinical sequelae. Given the increasing
relative contribution of genetic diseases to perinatal morbidity and mortality in India, proper recognition and management
of holoprosencephaly can improve care for a significant number of affected Indian children.
Evidence Acquisition: We used the PubMed database (search terms: “holoprosencephaly,” “HPE,” “holoprosencephaly
India”) and cross-referenced articles regarding holoprosencephaly, using our research group’s extensive experience as a
guide for identifying seminal papers in the field.
Results: Holoprosencephaly is classified into four types based on the nature of the brain malformations as seen on
neuroimaging and/or pathologic examination, with typically recognizable craniofacial phenotypes. Despite the
identification of several genetic loci and other etiologic agents involved in pathogenesis, additional causes are elusive.
Moreover, satisfactory explanations for phenomena such as incomplete penetrance and variable expressivity are lacking.
Conclusions: For each patient, pediatricians should follow a diagnostic protocol including dysmorphology examination,
complete family history and ascertainment of risk factors, and neuroimaging. Many medical issues, including
hypothalamic dysfunction, endocrinologic dysfunction, motor impairment, respiratory issues, seizures, and
hydrocephalus should be prioritized in management. Pediatricians should work with genetic specialists to identify
syndromic forms and to perform cytogenetic investigation, molecular screening, and genetic counseling in order to fully
characterize prognosis and recurrence risk
Description
Keywords
Diagnosis, Holoprosencephaly, Genetics, Management, Review
Citation
Raam Manu S, Solomon Benjamin D, Muenke Maximilian. Holoprosencephaly: A Guide to Diagnosis and Clinical Management. Indian Pediatrics. 2011 Jun; 48(6): 457-466.