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Two sibs with brachyolmia type Hobaek: five year follow-up through puberty.

Abstract

A brother and a sister affected with brachyolmia (short trunk) are reported. Their radiological findings are compatible with brachyolmia, Hobaek type, which is characterized by platyspondyly, horizontal acetabular roof, short femoral neck, and vertical "mixed lucent and dense" striation pattern in the metaphyses of large long bones. Despite normal birth weight and length, the platyspondyly is present at infancy, but clinically the condition may not be noticeable until late childhood or early puberty, when stunted growth becomes apparent. Beyond puberty, the patients are short in stature, mainly due to a short trunk with decrease upper and lower body segment ratio. Brachyolmia type Hobaek is a relatively benign condition. It may cause a mild and nonspecific backache that usually is not debilitating. The inheritance mode is apparently autosomal recessive.

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  • Authors+Show Affiliations

    ,

    Department of Pediatrics, SUNY Upstate Medical University, Syracuse, New York 13210, USA. hooj@upstate.edu

    Source

    MeSH

    Adolescent
    Bone Diseases, Developmental
    Bone and Bones
    Child
    Female
    Follow-Up Studies
    Humans
    Male
    Puberty
    Radiography
    Siblings

    Pub Type(s)

    Journal Article

    Language

    eng

    PubMed ID

    12476457

    Citation

    Hoo, Joe J., and Michael Oliphant. "Two Sibs With Brachyolmia Type Hobaek: Five Year Follow-up Through Puberty." American Journal of Medical Genetics. Part A, vol. 116A, no. 1, 2003, pp. 80-4.
    Hoo JJ, Oliphant M. Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. Am J Med Genet A. 2003;116A(1):80-4.
    Hoo, J. J., & Oliphant, M. (2003). Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. American Journal of Medical Genetics. Part A, 116A(1), pp. 80-4.
    Hoo JJ, Oliphant M. Two Sibs With Brachyolmia Type Hobaek: Five Year Follow-up Through Puberty. Am J Med Genet A. 2003 Jan 1;116A(1):80-4. PubMed PMID: 12476457.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. AU - Hoo,Joe J, AU - Oliphant,Michael, PY - 2002/12/12/pubmed PY - 2003/5/31/medline PY - 2002/12/12/entrez SP - 80 EP - 4 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 116A IS - 1 N2 - A brother and a sister affected with brachyolmia (short trunk) are reported. Their radiological findings are compatible with brachyolmia, Hobaek type, which is characterized by platyspondyly, horizontal acetabular roof, short femoral neck, and vertical "mixed lucent and dense" striation pattern in the metaphyses of large long bones. Despite normal birth weight and length, the platyspondyly is present at infancy, but clinically the condition may not be noticeable until late childhood or early puberty, when stunted growth becomes apparent. Beyond puberty, the patients are short in stature, mainly due to a short trunk with decrease upper and lower body segment ratio. Brachyolmia type Hobaek is a relatively benign condition. It may cause a mild and nonspecific backache that usually is not debilitating. The inheritance mode is apparently autosomal recessive. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/12476457/Two_sibs_with_brachyolmia_type_Hobaek:_five_year_follow_up_through_puberty_ L2 - https://doi.org/10.1002/ajmg.a.10875 DB - PRIME DP - Unbound Medicine ER -