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Autosomal dominant inheritance of the DeMyer Sequence
C Jaramillo1, S K Brandt, R J Jorgenson
1Scott and White Hospital, Temple, Texas.
Journal of Craniofacial Genetics and Developmental Biology
|January 1, 1988
Summary
This study identifies an autosomal dominant inheritance pattern for a spectrum of craniofacial defects, including holoprosencephaly (HPC) and milder forms like single central incisors. The findings suggest renaming this condition the DeMyer Sequence.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Holoprosencephaly (HPC) can be an isolated trait or part of a syndrome, with varied inheritance patterns reported.
- Autosomal recessive inheritance is linked to isolated HPC, while autosomal dominant inheritance is associated with syndromic forms.
Observation:
- A family presented with variable craniofacial defects, ranging from severe holoprosencephaly to mild facial dysmorphia.
- Affected individuals exhibited decreased bitemporal diameters, and one had a single central maxillary incisor.
Findings:
- The observed pattern of craniofacial defects, including holoprosencephaly and single central incisors, demonstrated autosomal dominant inheritance.
- This pattern suggests a spectrum of related conditions, with HPC being an occasional, more severe manifestation.
Implications:
- The term DeMyer Sequence is proposed as a more fitting designation than Holoprosencephaly Sequence for this autosomal dominant condition.
- Recognizing this spectrum aids in accurate diagnosis and genetic counseling for families with craniofacial anomalies.