Geleophysic dysplasia (MIM \*231050) is a rare autosomal recessive disorder, characterized by short stature with short limbs, brachydactyly, joint contractures, and a good-natured facial appearance. Infiltration of liver and cardiac leaflets has been reported in some patients. Based on the clinical
28-year follow-up of the craniofacial findings in a patient with craniometaphyseal dysplasia
β Scribed by Feingold, Murray
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 13 KB
- Volume
- 86
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19991029)86:5<501::aid-ajmg20>3.0.co;2-6
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π SIMILAR VOLUMES
Craniometaphyseal dysplasia (CMD) was found in 6 generations of a large German kindred; 24 affected individuals were identified. The clinical diagnosis was confirmed by further examinations in 15 individuals, including 2 exhumed skeletons. Five deceased individuals were considered to be undoubtedly
Diastrophic dysplasia (DTD) is a well characterized, recessively inherited osteochondrodysplasia. Forty-eight patients with DTD were studied for craniofacial characteristics. Of these patients, 58% had cleft palate. A cephalometric analysis based on lateral cephalograms was performed. We observed a
We present the clinical and radiographic findings in a patient with the autosomal recessive form of craniometaphyseal dysplasia (CMD). The changes from infancy to the age of 17 years are illustrated and discussed. Am.