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Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.
J Med Genet. 1976 Apr; 13(2):136-41.JM

Abstract

A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome is thought to be transmitted as an autosomal recessive trait. The basic defect is unknown.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

933111

Citation

Goodman, R M., et al. "Camptodactyly, With Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases: Tel Hashomer Camptodactyly Syndrome." Journal of Medical Genetics, vol. 13, no. 2, 1976, pp. 136-41.
Goodman RM, Katznelson MB, Hertz M, et al. Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome. J Med Genet. 1976;13(2):136-41.
Goodman, R. M., Katznelson, M. B., Hertz, M., & Katznelson, A. (1976). Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome. Journal of Medical Genetics, 13(2), 136-41.
Goodman RM, et al. Camptodactyly, With Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases: Tel Hashomer Camptodactyly Syndrome. J Med Genet. 1976;13(2):136-41. PubMed PMID: 933111.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome. AU - Goodman,R M, AU - Katznelson,M B, AU - Hertz,M, AU - Katznelson,A, PY - 1976/4/1/pubmed PY - 1976/4/1/medline PY - 1976/4/1/entrez SP - 136 EP - 41 JF - Journal of medical genetics JO - J Med Genet VL - 13 IS - 2 N2 - A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome is thought to be transmitted as an autosomal recessive trait. The basic defect is unknown. SN - 0022-2593 UR - https://wwww.unboundmedicine.com/medline/citation/933111/Camptodactyly_with_muscular_hypoplasia_skeletal_dysplasia_and_abnormal_palmar_creases:_Tel_Hashomer_camptodactyly_syndrome_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=933111 DB - PRIME DP - Unbound Medicine ER -