Tags

Type your tag names separated by a space and hit enter

Spondylometaphyseal dysplasia in two sibs of normal parents.
Pediatr Radiol. 1978 Jun 19; 7(2):90-6.PR

Abstract

Two sibs with identical features of short-limbed dwarfism, a normal skull and face and normal intelligence are described. On the basis of the radiological and clinical characteristics the condition must be included within the group of spondylometaphyseal dysplasias. In contrast to the familial cases described up to now in which the mode of inheritance was autosomal dominant, the trait in the two children described here was transmitted as an autosomal recessive.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

673535

Citation

Gustavson, K H., et al. "Spondylometaphyseal Dysplasia in Two Sibs of Normal Parents." Pediatric Radiology, vol. 7, no. 2, 1978, pp. 90-6.
Gustavson KH, Holmgren G, Probst F. Spondylometaphyseal dysplasia in two sibs of normal parents. Pediatr Radiol. 1978;7(2):90-6.
Gustavson, K. H., Holmgren, G., & Probst, F. (1978). Spondylometaphyseal dysplasia in two sibs of normal parents. Pediatric Radiology, 7(2), 90-6.
Gustavson KH, Holmgren G, Probst F. Spondylometaphyseal Dysplasia in Two Sibs of Normal Parents. Pediatr Radiol. 1978 Jun 19;7(2):90-6. PubMed PMID: 673535.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Spondylometaphyseal dysplasia in two sibs of normal parents. AU - Gustavson,K H, AU - Holmgren,G, AU - Probst,F, PY - 1978/6/19/pubmed PY - 1978/6/19/medline PY - 1978/6/19/entrez SP - 90 EP - 6 JF - Pediatric radiology JO - Pediatr Radiol VL - 7 IS - 2 N2 - Two sibs with identical features of short-limbed dwarfism, a normal skull and face and normal intelligence are described. On the basis of the radiological and clinical characteristics the condition must be included within the group of spondylometaphyseal dysplasias. In contrast to the familial cases described up to now in which the mode of inheritance was autosomal dominant, the trait in the two children described here was transmitted as an autosomal recessive. SN - 0301-0449 UR - https://www.unboundmedicine.com/medline/citation/673535/Spondylometaphyseal_dysplasia_in_two_sibs_of_normal_parents_ L2 - https://medlineplus.gov/dwarfism.html DB - PRIME DP - Unbound Medicine ER -