Related Experiment Videos
Intrafamilial variability in cleidocranial dysplasia: a three generation family
D Chitayat1, K A Hodgkinson, E M Azouz
1Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
Insights
Cleidocranial dysplasia (CCD) shows varied symptoms within families. Genetic assessment of relatives is crucial after identifying a new case to understand the condition's spectrum.
Area of Science:
- Genetics
- Pediatrics
- Skeletal Dysplasias
Background:
- Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone development.
- It is characterized by skeletal abnormalities, particularly involving the clavicles and skull.
Observation:
- A three-generation family was studied after a child presented with severe CCD.
- The proband exhibited respiratory distress due to a narrow thorax and clavicular abnormalities.
- Other family members (mother, aunt, grandmother) displayed milder, variable features of CCD.
Findings:
- The study highlights significant intrafamilial variability in the clinical presentation of cleidocranial dysplasia.
- Genetic penetrance and expressivity of CCD can differ substantially among relatives.
Implications:
- Early and thorough clinical evaluation of family members is essential when a sporadic case of CCD is diagnosed.
- Understanding familial variation aids in accurate diagnosis and genetic counseling for cleidocranial dysplasia.
- This case underscores the importance of a comprehensive family history in genetic disorders.
Abstract:
We present a 3-generation family, ascertained after the birth of a child with cleidocranial dysplasia (CCD). The propositus presented with respiratory distress (due to a narrow thorax) and hypoplasia and discontinuity of both clavicles. The mother, aunt, and grandmother had varied features of the condition. This intrafamilial variation illustrates the need for clinical assessment of family members following the birth of an apparent sporadic case of CCD.