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Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.
Am J Med Genet. 1983 Oct; 16(2):201-11.AJ

Abstract

Brachyolmia recessive type (Hobaek) is a rare bone dysplasia characterized by short trunk dwarfism that becomes evident during childhood. The radiographic manifestations are primarily limited to the spine, and consist of universal platyspondyly with lateral extension of the vertebral bodies beyond the pedicles and irregularity of the vertebral end plates. Histologic changes seen on growth plate biopsy permit the diagnosis to be confirmed. The inheritance pattern appears to be autosomal-recessive.

Authors

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

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

6650565

Citation

Horton, W A., et al. "Brachyolmia, Recessive Type (Hobaek): a Clinical, Radiographic, and Histochemical Study." American Journal of Medical Genetics, vol. 16, no. 2, 1983, pp. 201-11.
Horton WA, Langer LO, Collins DL, et al. Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. Am J Med Genet. 1983;16(2):201-11.
Horton, W. A., Langer, L. O., Collins, D. L., & Dwyer, C. (1983). Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. American Journal of Medical Genetics, 16(2), 201-11.
Horton WA, et al. Brachyolmia, Recessive Type (Hobaek): a Clinical, Radiographic, and Histochemical Study. Am J Med Genet. 1983;16(2):201-11. PubMed PMID: 6650565.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. AU - Horton,W A, AU - Langer,L O, AU - Collins,D L, AU - Dwyer,C, PY - 1983/10/1/pubmed PY - 1983/10/1/medline PY - 1983/10/1/entrez SP - 201 EP - 11 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 16 IS - 2 N2 - Brachyolmia recessive type (Hobaek) is a rare bone dysplasia characterized by short trunk dwarfism that becomes evident during childhood. The radiographic manifestations are primarily limited to the spine, and consist of universal platyspondyly with lateral extension of the vertebral bodies beyond the pedicles and irregularity of the vertebral end plates. Histologic changes seen on growth plate biopsy permit the diagnosis to be confirmed. The inheritance pattern appears to be autosomal-recessive. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6650565/Brachyolmia_recessive_type__Hobaek_:_a_clinical_radiographic_and_histochemical_study_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1983&volume=16&issue=2&spage=201 DB - PRIME DP - Unbound Medicine ER -