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143 Possible Causes for Mental Retardation, Pediatric Disorder, Severely Disproportionate Short Stature

  • Dyggve-Melchior-Clausen Syndrome

    Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[books.google.com] Dyggve-Melchior-Clausen syndrome without mental retardation has clinical and radiographic findings similar to those of Smith-McCort dysplasia.[ncbi.nlm.nih.gov] 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]

  • 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] This condition generally does not affect the immune system or the hair, but mild mental retardation has been reported. Prevention - Anauxetic dysplasia Not supplied.[checkorphan.org] 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]

  • Schwartz-Lelek Syndrome

    Craniotubular bone disorders. Pediatric Radiology , Vol. 24, Issue. 6, p. 392.[cambridge.org] @article{Reardon1991SibsWM, title {Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia[semanticscholar.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]

  • Congenital Hemihypertrophy

    Bilateral adrenal pheochromocytomas have also been described in patients with Beckwith–Wiedemann syndrome (BWS), a pediatric overgrowth disorder, usually presenting with hemihypertrophy[edmcasereports.com] Associated abnormalities were present in all cases: a single abnormality in 3 cases (mental retardation, iris heterochromia and, respectively, left foot gigantism) and 3 to[ncbi.nlm.nih.gov] short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity.[mendelian.co]

  • Russell-Silver Syndrome

    […] endocrine disorders.[books.google.com] At follow-up, five of the 15 patients exhibited late catch-up growth and had normal height, six had developmental delays or mental retardation, and asymmetry was present in[ncbi.nlm.nih.gov] Disproportionate short stature is suggestive of skeletal dysplasia.[doi.org]

  • Mesomelic Dysplasia Type Langer

    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] At review aged 12 years he remained severely mentally retarded.[jmg.bmj.com] From Wikidata Jump to navigation Jump to search Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening[wikidata.org]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    […] you need to effectively diagnose and treat pediatric musculoskeletal disorders.[books.google.de] A new variant of spondyloepiphyseal dysplasia tarda with mild to moderate mental retardation is described in three daughters born to healthy, consanguineous parents.[ncbi.nlm.nih.gov] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong[monarchinitiative.org]

  • Pipecolic Acidemia

    […] treatments and interventions Covers neurological, neuropsychiatric, and neuromedical disorders across the lifespan (pediatric, adult, and geriatric populations) Includes[books.google.ro] retardation * Hairy cell leukemia * Hairy… … Wikipedia hyperpipecolic acidemia — SYN: hyperpipecolatemia … Medical dictionary[medicine.academic.ru] RCDP types II and III are characterized by variable severity of clinical manifestations and by disproportionately short stature that primarily affects the proximal parts of[emedicine.medscape.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] One child had mental retardation. Two were hereditary, and 1 was sporadic.[ncbi.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]

  • 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] The most severe mental retardation was noted in the group of children with a head circumference of minus 4 standard deviations or below.[pediatrics.aappublications.org] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net]

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