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44 Possible Causes for Severely Disproportionate Short Stature, Shortened Long Tubular Bones

  • Pseudoachondroplasia

    Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] Definition A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower[uniprot.org]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Physical exaniination at 13 years (Fig. 1) showed severe, disproportionate shortness of stature caused by rhizomesomelic shortness with a semiflexed posture (clinical and[docslide.com.br] Mild skeletal deformities, short stature, and weakness were also noted.[docslide.com.br]

  • Saldino-Noonan Syndrome

    […] progresses to true and disproportionate microcephaly ; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs[lookfordiagnosis.com] The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR), severe postnatal growth retardation; relatively proportionate head size at birth which[lookfordiagnosis.com]

  • Mesomelic Dysplasia Type Langer

    The homozygous state of the gene for Leri-Weill syndrome causes Langer mesomelic dysplasia which is characterized mainly by shortening of the long tubular bones, more markedly[ncbi.nlm.nih.gov] From Wikidata Jump to navigation Jump to search Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening[wikidata.org] Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone[emedicine.medscape.com]

  • Geleophysic Dysplasia

    Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies.[orpha.net] Geleophysic dysplasia is a rare, autosomal recessive disorder which causes disproportionate short stature associated with severe physical handicaps, but is compatible with[ncbi.nlm.nih.gov] Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies.[diseaseinfosearch.org]

  • 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]

  • Skeletal Dysplasia

    […] acetabular roof), metatropic dysplasia (OMIM 156530; mushrooming of the long tubular bones), and lethal metaphyseal chondrodysplasia (OMIM 250220; short ribs with splayed[journals.lww.com] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org]

  • Platyspondyly

    Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies.[mendelian.co] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co] During growth, the tubular long bones lengthen more than would be expected in a true achondroplastic dwarf.[ajronline.org]

  • Geleophysic Dysplasia 2

    Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies.[orpha.net] On examination, he had severe disproportionate short stature with a height of 115 cm (-3.9 SDS) [ 10 , 11 ], a markedly elevated sitting height/total height ratio (sitting[karger.com] The skeletal system shows osteopenia, coxa valga, shortened long tubular bones, short hands, wrist contractures, short metacarpals with rounded proximal ends, and short feet[accessanesthesiology.mhmedical.com]

  • Spondyloepimetaphyseal Dysplasia Type Matrilin-3

    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] Final height is not as severely affected as in achondroplasia and is usually in the range 130–165 cm. 2.1.1.3.[intechopen.com]

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