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Autosomal recessive alobar holoprosencephaly with essentially normal faces
1Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA. barr@med.umich.edu
American Journal of Medical Genetics
|September 20, 2002
Summary
Holoprosencephaly often presents with distinct facial features. However, this study highlights three siblings with alobar holoprosencephaly and normal faces, challenging typical diagnostic criteria.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Neurology
Background:
- Holoprosencephaly is a congenital disorder characterized by incomplete separation of the forebrain.
- Facial dysmorphism, particularly a 'diagnostic face,' is observed in approximately 80% of holoprosencephaly cases.
- Understanding variations in holoprosencephaly presentation is crucial for diagnosis and genetic counseling.
Observation:
- This report details three siblings diagnosed with alobar holoprosencephaly.
- Notably, these siblings presented with essentially normal facial features, deviating from the common presentation.
- This observation aligns with previously reported familial cases and infants of diabetic mothers.
Findings:
- Alobar holoprosencephaly can occur in the absence of the typical diagnostic facial features.
- The genetic and environmental factors influencing facial development in holoprosencephaly require further investigation.
- This presentation broadens the spectrum of holoprosencephaly phenotypes.
Implications:
- Clinicians should consider holoprosencephaly even with normal facial appearance, especially in familial contexts or with specific maternal history.
- This finding may necessitate re-evaluation of diagnostic guidelines and imaging protocols for holoprosencephaly.
- Further research into the genetic underpinnings of this variant presentation is warranted to improve diagnostic accuracy and patient management.