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Open Anterior Fontanelle with Absent Clavicles in a 5 Years Old Boy



Question:
Bajpai A*, Vohra GS**
*Department of Pediatrics, 7Air Force Hospital, Kanpur, India, ** Department of Radiodiagnosis, 7Air Force Hospital, Kanpur, India.

Address for Correspondence: Major Ajay Bajpai, 7Air Force Hospital, Kanpur Cantt 208004, India. Email: baijuafmc@yahoo.co.in

A 5 year old boy presented with an open anterior fontanelle. Physical examination revealed that the anterior and posterior fontanelles were open. Anterior fontanelle diameter was 4 x 3 cm. In addition, he had frontal and parietal bossing, brachiocephalic head, flat nasal bridge, retrognathism and dental deformities like malocclusion and crowding of teeth (Figure 1). Shoulders were hypermobile with the ability to bring shoulders together. Developmental milestones and other systems were normal. Bilateral clavicles were absent on chest X-ray (Figure 2).

What is the diagnosis?

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