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[Articular contracture with dwarfism and normal intelligence: a new autosomal dominant familial syndrome].
J Genet Hum. 1980 Sep; 28(3):299-304.JG

Abstract

A father and his daughter has the same features: short stature, the distal phalanges, the wrists, the elbows, the feet and the knees were flexed. All other joints had abnormal range of motion. Kypho-scoliosis was present in the father only. Father's family was normal. Upon X-rays examination no abnormalities could be seen. This syndrome is inherited as autosomal dominant.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

7463030

Citation

Stoll, C, et al. "[Articular Contracture With Dwarfism and Normal Intelligence: a New Autosomal Dominant Familial Syndrome]." Journal De Genetique Humaine, vol. 28, no. 3, 1980, pp. 299-304.
Stoll C, Roth MP, Levy JM. [Articular contracture with dwarfism and normal intelligence: a new autosomal dominant familial syndrome]. J Genet Hum. 1980;28(3):299-304.
Stoll, C., Roth, M. P., & Levy, J. M. (1980). [Articular contracture with dwarfism and normal intelligence: a new autosomal dominant familial syndrome]. Journal De Genetique Humaine, 28(3), 299-304.
Stoll C, Roth MP, Levy JM. [Articular Contracture With Dwarfism and Normal Intelligence: a New Autosomal Dominant Familial Syndrome]. J Genet Hum. 1980;28(3):299-304. PubMed PMID: 7463030.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Articular contracture with dwarfism and normal intelligence: a new autosomal dominant familial syndrome]. AU - Stoll,C, AU - Roth,M P, AU - Levy,J M, PY - 1980/9/1/pubmed PY - 1980/9/1/medline PY - 1980/9/1/entrez SP - 299 EP - 304 JF - Journal de genetique humaine JO - J Genet Hum VL - 28 IS - 3 N2 - A father and his daughter has the same features: short stature, the distal phalanges, the wrists, the elbows, the feet and the knees were flexed. All other joints had abnormal range of motion. Kypho-scoliosis was present in the father only. Father's family was normal. Upon X-rays examination no abnormalities could be seen. This syndrome is inherited as autosomal dominant. SN - 0021-7743 UR - https://wwww.unboundmedicine.com/medline/citation/7463030/[Articular_contracture_with_dwarfism_and_normal_intelligence:_a_new_autosomal_dominant_familial_syndrome]_ L2 - http://www.diseaseinfosearch.org/result/2355 DB - PRIME DP - Unbound Medicine ER -