Create issue ticket

141 Possible Causes for Pediatric Disorder, Severely Disproportionate Short Stature

  • Osteogenesis Imperfecta

    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] […] congenital disorders is caused by a glycine substitution in the procollagen molecule?[orthobullets.com]

  • Familial Short Stature

    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] Lifshitz F, Zandsberg S (1985) Disorders of growth. In: Lifshitz F (ed) Pediatric endocrinology. Marcel Dekker, New York p 14 Google Scholar 14.[link.springer.com]

  • Cleidocranial Dysplasia

    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] Tachdjian's Pediatric Orthopaedics . 5th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 40. Horton WA, Hecht JT. Disorders involving transcription factors.[mountsinai.org]

  • Diastrophic Dysplasia

    ., BONE DYSPLASIA: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed., Oxford Press, 2002, 200.[mirc.luriechildrens.org] BACKGROUND: Diastrophic dysplasia results in severe disproportionate short stature, generalized joint deformities, and early osteoarthritis.[ncbi.nlm.nih.gov] Abstract Diastrophic dysplasia (DD), a congenital skeletal dysplasia, is characterized by short, disproportionate stature, multiple severe spinal and joint deformities, and[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] Affiliations [ 1 ] Pediatric Orthopedic Institute n.a. H.[scienceopen.com]

  • Tibia Varum

    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] […] you need to effectively diagnose and treat pediatric musculoskeletal disorders.[books.google.ro]

  • Russell-Silver Syndrome

    […] endocrine disorders.[books.google.com] Disproportionate short stature is suggestive of skeletal dysplasia.[doi.org] Disorders of growth hormone/insulin-like growth factor secretion and action. In: Sperling MA, ed. Pediatric Endocrinology. 4th ed.[stlukes-stl.com]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    […] 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] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately[rarediseases.info.nih.gov]

  • Schwartz-Lelek Syndrome

    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] […] of Rio de Janeiro, emphasizing the importance of early diagnosis of this genetic disorder.[blackstar.forp.usp.br]

  • Anauxetic Dysplasia

    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] […] hematologic disorders, including newly recognized ones.[books.google.com]

Further symptoms