CLEIDOCRANIAL DYSPLASIA
Dr. Atul A. Kulkarni, M.D. (Paed)*, Dr. Kiran B. Masal, Resident**
Department of Paediatrics, Ashwini Sahakari Rugnalaya & Research Centre, Solapur.*, Department of Paediatrics, Ashwini Sahakari Rugnalaya & Research Centre, Solapur.**
Antenatal USG shows abnormal shape of head. Parents brought baby because of abnormal shape and softening of head.
O/E - frontal and parietal bossing, depressed nasal bridge
- Absence of clavicle (bilaterally)
- Both shoulders meet anteriorly (because of absence of clavicle)
Cleidocranial Dysplasia
A characteristic syndrome especially of skeleton (cranium, clavicle, pelvis)& the affected having a typical physical features.

Main Signs:
  • Large, broad and short cranium with frontal and parietal bossing and supraglabellar depression.
  • Persistence of fontanelles and open sutures for years or life
  • Hypertelorism, broad depressed nasal bridge
  • Narrow upper thorax with absent or poorly clavicular depression
  • Hypo or dysplasia of clavicle
  • Narrow pelvis, short stature, dysodontiasis

Manifestation: At birth

Aetiology:- Autosomal dominant. Monogenic hereditary disorder (gene locus 8q22)

Radiologically: - Delayed maturation with wormian bones in cranium Delayed ossification mainly in pelvic bones. Coxa vera, accessory epiphyses in metacarpal / metatarsal region.

Course and Prognosis:- Life expectancy normal or slightly reduced. Developmental defects of teeth and jaws are frequent.

Differential Diagnosis:- Hydrocephalus/Osteogenesis imperfecta - Pyknodysostosis
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