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The hands in Saethre-Chotzen syndrome
P J Anderson1, C M Hall, R D Evans
1Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom.
Journal of Craniofacial Genetics and Developmental Biology
|October 1, 1996
Summary
Saethre-Chotzen syndrome often causes hand bone abnormalities, particularly affecting the thumb epiphysis. Most affected children also experience delayed bone age development before puberty.
Area of Science:
- Orthopedics
- Genetics
- Radiology
Background:
- Saethre-Chotzen syndrome is a genetic disorder characterized by craniosynostosis and other craniofacial abnormalities.
- Skeletal abnormalities, particularly in the hands, are recognized features of Saethre-Chotzen syndrome.
Purpose of the Study:
- To describe the spectrum of hand bone abnormalities in patients with Saethre-Chotzen syndrome.
- To evaluate the prevalence of delayed bone age in affected children.
Main Methods:
- Retrospective review of hand radiographs from 15 patients diagnosed with Saethre-Chotzen syndrome.
- Analysis of bone abnormalities in the thumbs, fingers, metacarpals, and radius.
- Assessment of bone age in patients before puberty.
Main Results:
- Eleven of 15 patients (73%) exhibited hand bone abnormalities.
- The epiphysis of the distal phalanx of the thumb was the most commonly affected site (7/15 patients).
- Fourteen of 15 pre-pubertal patients (93%) showed delayed bone age.
Conclusions:
- Hand radiography is valuable in identifying skeletal abnormalities in Saethre-Chotzen syndrome.
- Delayed bone age is a frequent finding in children with Saethre-Chotzen syndrome.
- These findings contribute to a better understanding of the skeletal manifestations of Saethre-Chotzen syndrome.