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CLEIDOCRANIAL DYSPLASIA
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XVII Annual Conference of IAP Maharashtra State (Mahapedicon 2006, Solapur, 3-5th November 2006)
Dr. Atul A. Kulkarni, M.D. (Paed), Dr. Kiran B. Masal, Resident
Department of Paediatrics, Ashwini Sahakari Rugnalaya & Research Centre, Solapur.
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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)
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| Cleidocranial Dysplasia
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A characteristic syndrome especially of skeleton (cranium, clavicle, pelvis ) the affected having a typical physical.
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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| Last Updated on 01-04-2007 |
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