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139 Possible Causes for Deafness, Pediatric Disorder, Severely Disproportionate Short Stature

  • Osteogenesis Imperfecta

    Code Applicable To Deafness NOS High frequency deafness Low frequency deafness congenital H90.5 ICD-10-CM Diagnosis Code H90.5 Unspecified sensorineural hearing loss 2016[icd10data.com] 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]

  • Cleidocranial Dysplasia

    He had conductive deafness and normal intelligence quotient. Chest X-ray revealed a narrow thorax with oblique ribs and absent clavicles [Figure - 2].[jpgmonline.com] 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]

  • Schwartz-Lelek Syndrome

    The progressive thickening of the bones of the skull can lead to severe visual and neurological impairment, such as facial palsy and deafness.[medicinenet.com] 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]

  • Dyggve-Melchior-Clausen Syndrome

    […] characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness[whonamedit.com] 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]

  • Familial Short Stature

    There was no family history of deafness or diabetes mellitus although her mother had been investigated extensively for chronic fatigue.[endocrine-abstracts.org] 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]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    […] anomalies-metacarpal and metatarsal synostosis syndrome Deafness-intellectual disability syndrome, Martin-Probst type Deafness-onychodystrophy syndrome Delayed membranous[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]

  • Ellis-Van Creveld Syndrome

    In family A, the affected members showed an additional feature of profound deafness.[ncbi.nlm.nih.gov] Genetics: This is an autosomal recessive disorder.[wohproject.org] The syndrome has several typical features: chondrodysplasia resulting in disproportionate short stature, bilateral postaxial polydactyly of the hands, ectodermal dysplasia[jbsr.be]

  • Multiple Sclerosis

    Hearing and balance: Deafness can occur and feelings of unsteadiness are common.[patient.info] Consensus definitions proposed for pediatric multiple sclerosis and related disorders. Neurology 2007 ; 68: S7 – S12. Google Scholar Medline ISI 11.[doi.org] Short stature is described as disproportionate because the trunk may be shorter than the legs. In severe cases, final height may be less than 4 feet (120 centimeters).[rarediseases.org]

  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    Abnormal gait, ocular anomalies including cataracts and myopia with retinal detachment, deafness, and abdominal or inguinal hernias may occur.[symptoma.com] […] you need to effectively diagnose and treat pediatric musculoskeletal disorders.[books.google.com] We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk.[ncbi.nlm.nih.gov]

  • Diastrophic Dysplasia

    Chromosome 4 Monosomy 4q 31 Incontinentia Pigmenti 21 Chromosome 4 Monosomy Distal 4q 32 Keratitis Ichthyosis Deafness Syndrome 22 Chromosome 4 Partial Trisomy Distal 4q 33[books.google.com] ., 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]

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