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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Connective tissue involvement in two patients with features of cranioectodermal dysplasia
Andrew E Fry1, Claus Klingenberg, Jean Matthes
1Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK. andrew.fry@cardiffandvale.wales.nhs.uk
American Journal of Medical Genetics. Part A
|September 18, 2009
Summary
Cranioectodermal dysplasia (CED) is a rare genetic disorder. This study highlights significant connective tissue abnormalities, including skin laxity, in two CED patients, expanding the known features of this condition.
Area of Science:
- Genetics
- Dermatology
- Skeletal Dysplasias
Background:
- Cranioectodermal dysplasia (CED) is an autosomal recessive disorder.
- CED is characterized by craniofacial, ectodermal, and skeletal abnormalities.
- Chronic renal failure is an associated risk in CED patients.
Observation:
- Joint laxity has been observed in some CED patients.
- Significant skin and soft-tissue laxity has not been a prominent feature of CED.
- Two unrelated patients with CED presented with significant connective tissue involvement.
Findings:
- The observed connective tissue abnormalities included cutis laxa and hernias.
- Both patients exhibited pronounced joint laxity.
- These findings suggest a broader spectrum of connective tissue involvement in CED.
Implications:
- This report expands the phenotypic description of Cranioectodermal dysplasia.
- It emphasizes the importance of evaluating for connective tissue abnormalities in CED diagnosis.
- Further research is warranted to understand the genetic basis of these expanded features.
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