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]

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]

impairment Deafness Hearing defect [ more ] 0000365 Hyperextensible skin Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Micrognathia Little lower jaw [rarediseases.info.nih.gov]

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]

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]

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]

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]

Cervical cord compression in diastrophic dwarfism. J Pediatr. 1974 Jun. 84(6):862-4. [Medline]. Matsuyama Y, Winter RB, Lonstein JE. The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. [emedicine.com]