Create issue ticket

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

  • Osteogenesis Imperfecta

    Neurology and Musculoskeletal disorders and Home care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.[] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[] Despite numerous fractures, restricted activity, and short stature, most adults and children with OI lead productive and successful lives.[]

  • Diastrophic Dysplasia

    ., BONE DYSPLASIA: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed., Oxford Press, 2002, 200.[] BACKGROUND: Diastrophic dysplasia results in severe disproportionate short stature, generalized joint deformities, and early osteoarthritis.[] 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[]

  • Russell-Silver Syndrome

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

  • 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.[] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[] […] lead to short stature.[]

  • Progeria

    Haller, Caffey's Pediatric Diagnostic Imaging 10th ed. Mosby, 2004: 2212- 2213.[] […] growth retardation, resulting in short stature, low weight and delayed anterior fontanel closure.[] 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;[]

  • Schmid Metaphyseal Chondrodysplasia

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

  • Pseudoachondroplasia

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

  • Cleidocranial Dysplasia

    Tachdjian's Pediatric Orthopaedics. 5th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 40. Horton WA, Hecht JT. Disorders involving transcription factors.[] The presented case also had severe disproportionate short stature with US/LS of 1.03 and height of 118 cm (SDS of -4.2).[] […] of short stature.[]

  • Dyggve-Melchior-Clausen Syndrome

    Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[] 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[] Normally, there is growth deficiency resulting in short stature. Radiographic findings in older children and adults are pathognomonic for the disorder.[]