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Diastrophic dysplasia


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Diastrophic dysplasia in Ultrasound view

Published in: Health & Medicine
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Diastrophic dysplasia

  1. 1. Actor, Author & Motivational speaker
  2. 2. Synonyms of Diastrophic Dysplasia  Diastrophic Dwarfism  Diastrophic Nanism Syndrome
  3. 3. Difination  Autosomal Recessive.  Diastrophic in Greek mean twisted or crooked.  Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene). Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease.
  4. 4. Incidence 1 in 100,000 live births. In Finland, 1-2% of the general population are carriers and a total of 183 cases have been diagnosed, with a prevalence ratio of 1 in 30,000
  6. 6. Ultrasound Finding  Characterized by short stature  Short arms and legs (short-limbed dwarfism)  Abnormal development of bones (skeletal dysplasia)  (Joint dysplasia) in many areas of the body  Progressive abnormal curvature of the spine (scoliosis and/or kyphosis)  Prominent among these characteristics were (rhizomelia) of the lower and upper limbs (shortening of the proximal portions)
  7. 7.  Mesomelia (shortening of the intermediate portions)  Both upper limbs showed marked curvature  Thumbs to deviate away (abduction) from the body ("hitchhiker thumbs")  Clinodactyly of the fifth finger  Abnormal tissue changes of the outer, visible portions of the ears (pinnae)
  8. 8.  In some cases, malformations of the head and facial (craniofacial) area  Spina bifida occulta  Micrognathia
  9. 9. Prenatal ultrasonography findings of diastrophic dysplasia(a) clubfoot; (b) fifth finger with clinodactyly.
  10. 10. Hypoplasia of the first metacarpal(clinodactyly )
  11. 11. Three-dimensional sonographic features of diastrophic dysplasia at 23 weeks’ gestation. (a) Facial dysmorphism with severe micrognathia and small nose. (b) Shortening of upper limb with hitchhiker thumb. (c) Short, deformed lower limbs in ‘Buddha’ position and severe talipes. (d) Thoracolumbar kyphoscoliosis.
  12. 12. Cauliflower earsShort limbs Hitchhiker thumb
  13. 13. Newborn with diastrophic dysplasia the first finger can be seen to be in abduction which is a typical alteration of this pathological condition.
  14. 14. Differnational Diagnosis  Achondroplasia → Frontal bossing ± mild macrocrania  Asphyxiating thoracic anomalies distrophy (Jeune syndrome)→ Thoracic hypoplasia ± polydactyly/renal  Diastrophic dysplasia → Postural deformities + ‘hitch-hiker’s thumb’ + micrognathia
  15. 15. Achondrogenesis type 2
  16. 16. Complication  Respiratory Obstruction Respiratory obstruction, including laryngeal stenosis, may occur in newborns. The mortality rate due to respiratory distress can approach 25% in early infancy.  Hypoplastic Cartilage Hypoplastic cartilage in the trachea and larynx causes voice abnormalities and breathing difficulty.  Small Auditory Canals Small auditory canals are characteristic, but this does not usually impair hearing. However, deformity of the middle ear ossicles can result in hearing loss.
  17. 17.  Surgery is usually performed before walking age to correct foot deformities.  Later in life, patients must look out for worsening foot deformities, progressive curvature of the spine, and hip pain in early adult life (due to arthritis). Common surgical procedures intended to correct these problems include an osteotomy of the foot or lower leg (to achieve a plantigrade foot) or hip replacement surgery (for progressive degenerative arthritis).