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110 Possible Causes for Pediatric Disorder, Severely Disproportionate Short Stature, Short Stature in Children

  • 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] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com]

  • 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] Despite numerous fractures, restricted activity, and short stature, most adults and children with OI lead productive and successful lives.[checkorphan.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] Parents should be offered contact with other parents of children of short stature, and the children themselves should also be offered the opportunity to meet children in the[socialstyrelsen.se]

  • Russell-Silver Syndrome

    […] endocrine disorders.[books.google.com] Disproportionate short stature is suggestive of skeletal dysplasia.[doi.org] Russell-Silver syndrome (RSS) is characterized by slow growth both in utero and after birth, short stature, and specific facial features.[gemssforschools.org]

  • Growth Failure

    J Pediatr Gastroenterol Nutr. 2004 ;38: 282 - 287. Google Scholar Crossref Medline ISI 16. Freeze, HH. Congenital disorders of glycosylation and the pediatric liver.[journals.sagepub.com] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net] […] lead to short stature.[rileychildrens.org]

  • Progeria

    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] The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia; short stature; abnormal skin, teeth, and nails; beaked nose;[ncbi.nlm.nih.gov]

  • Schmid Metaphyseal Chondrodysplasia

    External links Metaphyseal chondrodysplasia, Jansen type — OrphaNet Information (PDF) Jansen’s Metaphyseal Chondrodysplasia, Case Report, Indian Pediatrics Jansen Type Metaphyseal[checkrare.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] […] present with a waddling gait, exaggerated lumbar lordosis, genu varum , and short stature; - additional features include: - mental retardation; - joint contractures; - exophthalmic[wheelessonline.com]

  • Pseudoachondroplasia

    Disorders of the Pediatric and Adolescent Spine. Spinal Manifestations of Skeletal Dysplasias. Original Text by Clifford R. Wheeless, III, MD.[wheelessonline.com] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] These children have short stature, with short arms and legs and short fingers.[socialstyrelsen.se]

  • 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] […] of short stature.[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] Normally, there is growth deficiency resulting in short stature. Radiographic findings in older children and adults are pathognomonic for the disorder.[healthetreatment.com]