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Diastrophic Dysplasia

Diastrophic Dwarfism


Presentation

  • This paper presents a novel but simple approach to the compression of auricular swelling in the setting of diastrophic dysplasia, using conforming molds with the goal of preventing permanent deformity.[ncbi.nlm.nih.gov]
Lymphedema
  • The retrospective follow-up of the four previous pregnancies and of the present one with affected fetuses disclosed that two mothers had had vaginal bleeding, two lymphedema, one abdominal pains, and one mother had had polyhydramnios.[ncbi.nlm.nih.gov]
Localized Edema
  • The thickness of the joint cartilage was diminished and signs of early osteoarthritis, including bone cysts and local edema, were common. The ligamentum teres was visible in only 24% of patients, suggesting abnormality of the ligamentous structures.[ncbi.nlm.nih.gov]
Short Disproportionate Stature
  • Abstract Diastrophic dysplasia (DD), a congenital skeletal dysplasia, is characterized by short, disproportionate stature, multiple severe spinal and joint deformities, and normal mental status.[ncbi.nlm.nih.gov]
Abdominal Pain
  • The retrospective follow-up of the four previous pregnancies and of the present one with affected fetuses disclosed that two mothers had had vaginal bleeding, two lymphedema, one abdominal pains, and one mother had had polyhydramnios.[ncbi.nlm.nih.gov]
Malocclusion
  • The typical malocclusion traits were crowding, lateral crossbite, and open bite, which we assumed to result from reduced growth potential of the dental arches.[ncbi.nlm.nih.gov]
Periodontitis
  • The level of oral hygiene was evaluated with caries (DMF) and periodontal (GBI) indices. Cleft palate was recorded in 56% and hypodontia (excluding third molars) in 31% of the patients. Dental age was retarded.[ncbi.nlm.nih.gov]
Hearing Impairment
  • However, according to reports in the literature, other affected infants and children may experience hearing impairment due to such auditory canal stenosis or abnormal fusion or absence of the three tiny bones (auditory ossicles) in the middle ear that[rarediseases.org]
  • Hearing impairment not usual (it is related to fusion of ossicles). Some patients present deformities of larynx and upper airways (laryngo and tracheomalacia). They can develop severe respiratory insufficiency.[peachynay.tripod.com]
Skeletal Dysplasia
  • Patients at risk for skeletal dysplasia could benefit from the enhancements of ultrasound techniques. An early diagnosis of diastrophic dysplasia can be reached at the and of the first trimester of pregnancy, using TVS.[ncbi.nlm.nih.gov]
  • Locations & Doctors Nemours is world-renowned for skeletal dysplasia diagnosis and treatment. We strive to maximize children’s mobility, correct deformity, and prevent future complications.[nemours.org]
Muscular Atrophy
  • All patients also had muscular atrophy and degenerative-like facet joint hypertrophy. The severity of these changes increased with age.[ncbi.nlm.nih.gov]
Vaginal Bleeding
  • The retrospective follow-up of the four previous pregnancies and of the present one with affected fetuses disclosed that two mothers had had vaginal bleeding, two lymphedema, one abdominal pains, and one mother had had polyhydramnios.[ncbi.nlm.nih.gov]
Average Intelligence
  • Most people with diastrophic dysplasia have average intelligence and a normal life expectancy and can expect to lead productive lives. All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts.[kidshealth.org]

Treatment

  • The SRS-24 yielded 92 (79-103) points for the brace treatment and 93 (73-114) points for the surgical group, respectively. CONCLUSION: Brace treatment does not prevent progression of the spinal deformity in patients with DD.[ncbi.nlm.nih.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future.[ncbi.nlm.nih.gov]
  • Prognosis In the absence of severe complications (spinal cord compression) associated with spinal malformations, life expectancy is good but the short stature and deformity are usually severe.[orpha.net]
  • If you have questions about how your child’s condition and any related health issues may affect your child’s prognosis or long-term goals, talk to your child’s healthcare provider. Reviewed by: Denis S. Drummond, MD Date: May 2013[chop.edu]
  • Diastrophic Dysplasia Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours Medical review Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis[lpamrs.memberclicks.net]

Etiology

  • Abstract Patients with diastrophic dysplasia have walking difficulties of obscure etiology; some are even wheelchair-bound.[ncbi.nlm.nih.gov]
  • Etiology The syndrome is caused by mutations in the SLC26A2 (or diastrophic dysplasia sulfate transporter; DTDST ) gene (5q31-q34), which encodes a sulfate transporter that is predominantly expressed in the cartilage.[orpha.net]
  • .; J Pediatr Orthop. 2004 Sep-Oct;24(5):546 51 Abstract Understanding the etiology of walking difficulties and differences in diastrophic dysplasia.[lpamrs.memberclicks.net]

Epidemiology

  • Summary Epidemiology Prevalence is estimated at 1-1.3/100,000. The disorder affects both males and females. Clinical description At birth, infants have bilateral clubfoot, short limb deformation of the wrists and abducted thumbs.[orpha.net]
  • Genetisk epidemiologi i Norge. Finska läkaresällskapets handlingar 135, 199–213 (1992). 17 Goodman, R.M. in Population structure and genetic disorders (eds A.W. Eriksson, H.R. Forsius, H.R. Nevanlinna, P.L. Workman & R.K.[nature.com]
  • Epidemiology Although diastrophic dysplasia is extremely rare, the percentage of carriers in certain groups is high.[emedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Proteoglycans are considered to be among the chief constituents of cartilage.[emedicine.com]
  • Chalazion and Hordeolum ( Stye) - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional Version.[azuwavynyj.tk]
  • Dwarfs: pathophysiology and anesthetic implications. Anesthesiology 1990; 73: 739-759. Dwyer E, Hyland J, Modaff P, Pauli RM.[socialstyrelsen.se]

Prevention

  • This paper presents a novel but simple approach to the compression of auricular swelling in the setting of diastrophic dysplasia, using conforming molds with the goal of preventing permanent deformity.[ncbi.nlm.nih.gov]
  • Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.[en.wikipedia.org]
  • We strive to maximize children’s mobility, correct deformity, and prevent future complications.[nemours.org]

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