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104 Possible Causes for Bone Fragility, Pediatric Disorder, Severely Disproportionate Short Stature

  • Cleidocranial Dysplasia

    […] mineral density Increased bone density 0011001 Increased susceptibility to fractures Abnormal susceptibility to fractures Bone fragility Frequent broken bones Increased bone[rarediseases.info.nih.gov] Tachdjian's Pediatric Orthopaedics. 5th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 40. Horton WA, Hecht JT. Disorders involving transcription factors.[nlm.nih.gov] The presented case also had severe disproportionate short stature with US/LS of 1.03 and height of 118 cm (SDS of -4.2).[omjournal.org]

  • Osteogenesis Imperfecta

    Until recently, only one report of a boy with an Sp7/Osx pathogenic variant presenting with bone fragility, limb deformities and normal hearing has been described in the literature[ncbi.nlm.nih.gov] Neurology and Musculoskeletal disorders and Home care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.[ncbi.nlm.nih.gov] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • Schwartz-Lelek Syndrome

    Fragility 516 Multiple Radiolucent Defects Lytic Lesions 527 Osteolyses 538 Delayed Bone Age 548 Asymmetry Hemihypertrophy Hemiatrophy 562 Aarskog Syndrome 576 Achondroplasia[books.google.es] Craniotubular bone disorders. Pediatric Radiology , Vol. 24, Issue. 6, p. 392.[cambridge.org] […] 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]

  • Familial Short Stature

    Osteoporosis is characterized by low bone mineral density and deteriorated bone microstructure, expressed as increased bone fragility and proneness to fractures.[news-medical.net] Explore the impact of today’s advances and challenges, including explosive growth in molecular biology, sophisticated imaging techniques, and an increase in both pediatric[books.google.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]

  • Anauxetic Dysplasia

    Clinical picture: - very important hypertelorism with prominence of the central part of the face; telecanthus - absence of lacrimal points (tear ducts hypoplasia) - bone fragility[sites.uclouvain.be] Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders Pediatric Orthopedic Institute n.a. H. Turner Saint Petersburg Russia 2.[link.springer.com] 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]

  • Dyggve-Melchior-Clausen Syndrome

    Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[books.google.com] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[ncbi.nlm.nih.gov] Fragility 516 Multiple Radiolucent Defects Lytic Lesions 527 Osteolyses 538 Delayed Bone Age 548 Asymmetry Hemihypertrophy Hemiatrophy 562 Aarskog Syndrome 576 Achondroplasia[books.google.es]

  • Tibia Varum

    Osteogenesis imperfecta A connective tissue disorder characterised by osteoporosis, fragile bones, dentinogenesis imperfecta, deafness, blue sclera, ligamentous hyper mobility[flinders.edu.au] 12/18/2017 by Megan Young, MD, Children’s National Medical Center, Washington, DC Pediatric Lower Extremity Disorders Topics covered in this section: Genu varum Physiologic[posna.org] 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]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    fragility syndrome Campomelia, Cumming type Campomelic dysplasia Campomelic dysplasia and related disorders Camptobrachydactyly Camptodactyly of fingers Camptodactyly-tall[se-atlas.de] […] you need to effectively diagnose and treat pediatric musculoskeletal disorders.[books.google.de] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong[monarchinitiative.org]

  • Progeria

    Because progeria ages the body at eight times the normal rate, Hayley's skin is thin and papery; her bones fragile and her organs threatened by diseases typically associated[abcnews.go.com] Haller, Caffey's Pediatric Diagnostic Imaging 10th ed. Mosby, 2004: 2212- 2213.[ijri.org] […] growth retardation, resulting in short stature, low weight and delayed anterior fontanel closure.[ncbi.nlm.nih.gov]

  • Congenital Hemihypertrophy

    Top matches: High match OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass[mendelian.co] Bilateral adrenal pheochromocytomas have also been described in patients with Beckwith–Wiedemann syndrome (BWS), a pediatric overgrowth disorder, usually presenting with hemihypertrophy[edmcasereports.com] short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity.[mendelian.co]

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