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15 Possible Causes for Marked Metaphyseal Flaring of Long Bones, Severely Disproportionate Short Stature

  • Anauxetic Dysplasia

    A marked improvement of the bowing and of the irregular flare of the metaphyses was noted over a period of 6 mo.[scinapse.io] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] Other findings include congenital bowing of other long bones, narrow thorax, platyspondyly, micrognathia, and skin dimples.[scinapse.io]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    Roentgenologic findings include short long bones, wide and flared metaphyses with irregularities, delayed epiphyseal ossification, platyspondyly and morphological changes[ncbi.nlm.nih.gov] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[malacards.org]

  • Achondroplasia

    Achondroplasia is the most common condition associated with severe disproportionate short stature. 4 The diagnosis can usually be made on the basis of clinical characteristics[pediatrics.aappublications.org] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] stature.[doi.org]

  • Rhizomelic Chondrodysplasia Punctata Type 1

    Rhizomelic chondrodysplasia punctata type 1 ( RCDP1 ; MIM 215100) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic[ctgt.net] […] limb shortening, congenital cataracts, distinct facial features, severe intellectual disability, and seizures.[ctgt.net]

  • Kyphomelic Dysplasia

    […] of other long bones, metaphyseal changes in infancy, flared ribs, small thoracic cage, and platyspondyly.[ncbi.nlm.nih.gov] […] and wide illiac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature.[orpha.net] A marked improvement of the bowing and of the irregular flare of the metaphyses was noted over a period of 6 mo.[ncbi.nlm.nih.gov]

  • Oto-spondylo-megaepiphyseal Dysplasia

    Skeletal malformations affect the bones of the arms, legs and spines eventually resulting in disproportionate short stature. Hearing loss is often severe.[healthetreatment.com] Physical exaniination at 13 years (Fig. 1) showed severe, disproportionate shortness of stature caused by rhizomesomelic shortness with a semiflexed posture (clinical and[vdocuments.mx] Mild skeletal deformities, short stature, and weakness were also noted.[vdocuments.mx]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    The changes in the long bones were greatest in the proximal limbs and most marked in the proximal femurs.[omim.org] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co] Radiographic studies showed metaphyseal flaring and irregularity and delay and irregularity of epiphyseal ossification.[omim.org]

  • Achondrogenesis Type 1B

    Distinguishing radiographic features of fibrochondrogenesis are marked metaphyseal flaring of the long bones and clefts of the vertebral bodies.[ncbi.nlm.nih.gov] […] by severe disproportionate short stature of prenatal onset.[emedicine.medscape.com] Achondrogenesis II-hypochondrogenesis and lethal spondyloepiphyseal dysplasia congenita (SEDC) represent the more severe end of the spectrum. [7] These entities are characterized[emedicine.medscape.com]

  • Ulna Metaphyseal Dysplasia Syndrome

    In addition to being bowed, the long tubular bones are short and broad, with marked metaphyseal flaring.[rrnursingschool.biz] […] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear[flinders.edu.au] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com]

  • Frontometaphyseal Dysplasia

    bones, and flaring iliac bones.[czytelniamedyczna.pl] Other non-lethal skeletal dysplasias result in disproportionate short stature. Achondroplasia is the most common cause of disproportionate short stature worldwide.[blueprintgenetics.com] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com]

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