Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.
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.
D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D003094:Collagen / Q000378:metabolism; D005260:Female; D005808:Genes, Recessive; D006132:Growth Plate / Q000473:pathology; D006651:Histocytochemistry; D006801:Humans; D007085:Ilium / Q000473:pathology; D007231:Infant, Newborn; D008297:Male
D003094:Collagen