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Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome
Insights
This study describes a rare genetic syndrome, parietal foramina-cleidocranial dysplasia, characterized by skull and skeletal abnormalities. Autosomal dominant inheritance was confirmed through a three-generation family study.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Human Genetics
Background:
- Parietal foramina are rare congenital skull defects.
- Cleidocranial dysplasia is a skeletal disorder affecting bone development, particularly the clavicles.
Observation:
- A male infant presented with macrocephaly, scaphocephaly, high forehead, parietal foramina, posterior occipital dermoid, and sloped shoulders.
- Skeletal survey revealed distal clavicle hypoplasia and acromial agenesis.
- Affected individuals were identified across three generations of the same family.
Findings:
- The syndrome, potentially named parietal foramina-cleidocranial dysplasia, presents with a distinct constellation of craniofacial and skeletal anomalies.
- Male-to-male transmission observed in the family strongly supports an autosomal dominant inheritance pattern.
Implications:
- This report expands the understanding of parietal foramina-cleidocranial dysplasia, highlighting its clinical features and genetic basis.
- Recognition of this syndrome is crucial for accurate diagnosis and genetic counseling in affected families.
Abstract:
A male infant was evaluated with macrocephaly, scaphocephaly , a high forehead, a parietal foramen, a midline posterior occipital dermoid, and sloped shoulders. A skeletal survey also showed distal hypoplasia of the clavicles with bilateral loss of the acromion. Similar features were evident in his father, grandfather, and two paternal great-aunts. To our knowledge, this is the second report of this syndrome, which may be designated as parietal foramina-cleidocranial dysplasia. Our three-generation family and male-to-male transmission clearly established an autosomal dominant mode of inheritance for this syndrome.