Muhammad Nazir, Asim Rafiq.
Cleidocranial dysplasia, Neurofibromatosis type-I with frontal lobe glioma.
Pak Armed Forces Med J Jan ;55(3):261-4.

This eight years old girl, third daughter of consanguinous parents presented with frontal headache, vomiting and deteriorating school performance for the last five months. She had grown slowly since early childhood but had otherwise remained healthy and active until the onset of her symptoms five months ago. Her headache had worsened with time and was often accompanied by vomiting. On examination she was found to have height and weight below the third centiles. Head circumference was appropriate for age. She had frontal bossing but no other facial dysmorphism. Multiple café-au-lait spots were noticed randomly distributed over her trunk and extremities. Further search revealed axillary freckling which was more marked on the right side. She could painlessly approximate both shoulders in front of the chest. This uncanny flexibility had also been noticed by her parents previously. Ophthalmologic examination was done which revealed papilledema. No iris Lisch nodules or visual field defects were detected. The girl fulfilled NIH criteria for neurofibromatosis type I. Papilledema was provisionally attributed to hydrocephalus due to aqueductal stenosis or cerebral glioma, both conditions being well known associations of NF-I. Cleidocranial dysplasia was also strongly suspected and indeed quickly confirmed by an x-ray chest which revealed a small rudimentary clavicle on the right side and absent clavicle on the left.

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