PubMed · 11462702
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R Kato. 2001. [Holoprosencephaly].. https://pubmed.ncbi.nlm.nih.gov/11462702/
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Holoprosencephaly is a relatively common brain malformation occurring in 5-12/100,000 live births. The astonishing growth in molecular genetic medicine has provided the field of developmental nervous system malformations with new perspectives and tools for unraveling its mysteries and offering better information for clinicians and families. This is particularly evident in the group of complex midline malformations known as holoprosencephaly. Although new molecular findings have shed light on some of the causes and manifestations of this malformation, there remains a need to build on the existing clinical knowledge so that we may develop more effective treatments and improve the quality of life of these patients.
The upper lip of 17 consecutive individuals with various forms of holoprosencephaly were examined either at autopsy or during clinical evaluation. A total of 88% of cases were missing the superior labial frenulum regardless of the severity of holoprosencephaly or other associated craniofacial defects. Because the frenulum was found to be missing across a complete clinical spectrum of holoprosencephaly including cases exhibiting only minimal craniofacial features, it should be inspected as part of the craniofacial examination, and its absence should be prompt imaging studies of the brain. Absence of the frenulum in holoprosencephaly also provides evidence that its embryonic origin is that of the medial nasal process.
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