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)
|A characteristic syndrome especially of skeleton (cranium, clavicle, pelvis)& the affected having a typical physical features.
- 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
|How to Cite URL :|
|(Paed) M K A A D, Resident M B K D.. Available From : http://www.pediatriconcall.com/fordoctor/ Conference_abstracts/report.aspx?reportid=236|