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155 Possible Causes for Severely Disproportionate Short Stature, Skeletal Dysplasia

  • Anauxetic Dysplasia

    Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias characterized by different degrees from metaphyseal to spondylo-meta-epiphyseal[] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[] Key words: skeletal dysplasia, complex orthopaedic treatment.[]

  • Mesomelic Dysplasia Type Langer

    Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common non-lethal skeletal dysplasia.[] From Wikidata Jump to navigation Jump to search Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening[] Moreover, the clinical phenotype of SHOX mutations varies strongly and may range from severe disproportionate short stature to mild short stature with or without anomalies[]

  • Pseudoachondroplasia

    Hip/ knee replacement surgery in patients with skeletal dysplasia is a technically demanding exercise due to abnormal skeletal size and shape.[] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[] 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[]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    Stemming from research being performed at Baylor and its genetics department as part of a systematic search for genetic causes of skeletal dysplasias, the project set out[] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[]

  • Cleidocranial Dysplasia

    Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It carries an autosomal dominant inheritance 4.[] The presented case also had severe disproportionate short stature with US/LS of 1.03 and height of 118 cm (SDS of -4.2).[] Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that presents with skeletal dysplasia.[]

  • Growth Failure

    Any evidence of disproportionate short stature raises the question of an inborn skeletal dysplasia.[] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[] When a skeletal dysplasia is suspected, a skeletal survey is indicated [ 18 ], although presently an exome-based gene panel for skeletal dysplasias may be more efficient to[]

  • Diastrophic Dysplasia

    Patients at risk for skeletal dysplasia could benefit from the enhancements of ultrasound techniques.[] BACKGROUND: Diastrophic dysplasia results in severe disproportionate short stature, generalized joint deformities, and early osteoarthritis.[] Abstract Diastrophic dysplasia (DD), a congenital skeletal dysplasia, is characterized by short, disproportionate stature, multiple severe spinal and joint deformities, and[]

  • Osteogenesis Imperfecta

    When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis.[] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[] Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility.[]

  • Achondrogenesis Type 2

    Key Words: Achondrogenesis type 2 ; Congenital skeletal dysplasia[] […] by severe disproportionate short stature of prenatal onset.[] Autopsy Dilation and evacuation Genetic testing Lethal skeletal dysplasia Short long bones Pediatrics, Perinatology, and Child Health Pathology and Forensic Medicine Cite[]

  • Achondroplasia

    Medical Services Skeletal Dysplasia Definitions Achondroplasia Campomelic Dysplasia Cartilage Hair Hypoplasia Diastrophic Dysplasia Ellis-Van Creveld Dysplasia Hypochondroplasia[] 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[] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[]

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