A familial syndrome of short stature, deformities of the hands and feet, and an unusual facies.

Author:

Emery A E,Nelson M M

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. Dent and Normand;Maroteaux; Lamy;McKusick et al. (1964) Spahr and Spahr-Hartmann; Beals,1964

2. which the hands and feet are small, is inherited as an autosomal dominant trait but is associated with particular x-ray changes which were not seen in the proband;dysostosis (Garces, Peripheral

3. The deformities of the hands in the proband and her mother are sufficiently distinctive to be easily recognizable. The only other conditions in which it appears that somewhat similar deformities may occur are arthromyodysplasia congenita (Gorlin and Pindborg, 1964) and cranio-carpo-tarsal dysplasia (Weinstein and Gorlin, 1969). However other features of the former syndrome, such as involvement of larger joints, muscle hypoplasia, and multiple pterygia were not present in the proband. In the case of cranio-carpo-tarsal dysplasia, affected individuals also have an abnormally small mouth, characteristic 'whistling face' appearance, and particular facial x-ray changes, features that our patient did not have

4. Cartilage-hair-hypoplasia. A case report;Beals, R.K.;Journal of Bone andJoint Surgery,1968

5. Conradi's disease chondrodystrophia calcifans congenita, congenital stippled epiphyses;Comings, D.E.; Papazian, C.; Schoene, H.R.;Journal of Pediatrics,1968

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1. Emery-Nelson Syndrome;Genetic Syndromes;2024

2. Guadalajara camptodactyly syndrome type II;Clinical Genetics;2008-04-23

3. A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly;Clinical Genetics;2008-04-23

4. REFERENCES (GAMUTS);Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

5. Progressive neurological deterioration in a child with distal arthrogryposis and whistling face;Journal of Medical Genetics;2000-03-01

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