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Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
Humero-Spinal Dysostosis with Congenital Heart Disease

Presentation

Presumably because of the basic defect present in CHST3-related skeletal dysplasia, surgical correction is often only partially successful and most patients have had multiple procedures by adulthood [Unger et al 2010]. [ncbi.nlm.nih.gov]

Entire Body System

  • Single Transverse Palmar Crease

    Bilateral single transverse palmar creases MedGen UID: 354661 •Concept ID: C1862095 • Finding The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. [ncbi.nlm.nih.gov]

Ears

  • Hearing Impairment

    Hearing impairment MedGen UID: 235586 •Concept ID: C1384666 • Disease or Syndrome A general term for the complete or partial loss of the ability to hear from one or both ears. [ncbi.nlm.nih.gov]

Musculoskeletal

  • Arthralgia

    Arthralgia MedGen UID: 13917 •Concept ID: C0003862 • Sign or Symptom Joint pain. Clubfoot MedGen UID: 3130 •Concept ID: C0009081 • Congenital Abnormality A deformed foot in which the foot is plantarflexed, inverted, and adducted. [ncbi.nlm.nih.gov]

Face, Head & Neck

  • Short Neck

    Short femoral neck MedGen UID: 373033 •Concept ID: C1836184 • Finding An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [ncbi.nlm.nih.gov]

Workup

X-Ray

  • Delayed Bone Age

    bone age Lacks characteristic CHST3 skeletal dysplasia spine findings 1. [ncbi.nlm.nih.gov]

Treatment

Treatment of manifestations: Surgical correction of the abnormal joints is the only treatment modality; however, surgical correction is often only partially successful and multiple procedures are needed. Physical therapy has not been effective. [ncbi.nlm.nih.gov]

Prevention

It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [ncbi.nlm.nih.gov]

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