Craniodiaphyseal dysplasia is a very severe bone dysplasia characterized by "massive hyperostosis and sclerosis involving skull and facial bones".1 We report a case of craniodiaphyseal dysplasia in a 10-year-old female who presented with recurrent episodes of dacryocystitis and abnormal facial features. To the best of our knowledge only two such cases have been reported earlier,23 but ours is the first to document the narrowing of the nasolacrimal duct on computed tomography (CT).
A 10-year-old-female child presented to our hospital with left-sided epiphora and abnormal features. There was no family history of similar complaints or other genetic disorders. The child was born to parents who had a non-consanguineous marriage and were healthy. The pregnancy and delivery were unremarkable. No abnormalities were noted at birth. At the age of nine years, the parents noted abnormal facial features and persistent lacrimation of left eye, in their child.
Physical examination revealed grossly deformed head, short stature, hypertelorism and epiphora of left eye. The jaw was prominent and there was kyphoscoliosis of dorsal spine. The fundus examination was normal. The neurological examination was normal and child had normal intelligence quotient. The biochemical parameters such as serum calcium, serum phosphate, alkaline phosphatase, renal function tests and liver function tests were normal.
The skeletal radiographs revealed extensive thickening and sclerosis of calvarial and facial bones [Fig. 1], moderate widening and sclerosis of clavicles and ribs [Fig. 2], straight and cylindrical diaphysis of long bones [Fig. 3] and, increased density of neural arches of vertebrae (not shown). Subsequently, CT scan of head and orbit was done, which revealed significant narrowing of the left nasolacrimal duct, obliteration of paranasal sinuses [Fig. 4] and narrowing of optic canals and external auditory canals (not shown). Based on imaging findings, the diagnosis of craniodiaphyseal dysplasia was made.
Craniodiaphyseal dysplasia is the rarest of all sclerosing bone dysplasia, so far less than 30 cases have been reported in the English literature. It was first described by Gorlin et al. in 1969 as a very severe bone disorder characterized by massive hyperostosis and sclerosis, especially involving skull and facial bones.1 Earlier to this, Halliday and Joseph et al. in 1949 and 1958 respectively, had reported cases with similar features. However, at that time these cases were considered to be a variant of the Camurati-Engelmann disease.45
This dysplasia is inherited as an autosomal recessive trait with complete penetrance and variable expression, but autosomal dominant inheritance has also been reported.2 The basic abnormality is still not known, it has been thought that either excessive osteoblastic activity or abnormality in calcium and phosphate metabolism might be responsible.6 The affected patients typically present in early infancy with facial abnormalities such as paranasal bossing, hypertelorism and increased head circumference. Occasionally, they may present with recurrent dacryocystitis because of progressive stenosis of the nasolacrimal duct, which happened in our case.23 None of these case reports of craniodiaphyseal dysplasias have documented the narrowing of the nasolacrimal duct on CT scan. In our case the main complaint of the patient was epiphora of the left eye, which was likely due to the narrowing of the nasolacrimal duct and it was well demonstrated on CT scan. These patients may also present with respiratory difficulty due to nasal obstruction, blindness, deafness or cranial nerve palsies due to progressive bony encroachment upon cranial foramina. The prognosis of this dysplasia is very poor because of inevitable progression.6 Radiologically, this syndrome has to be differentiated from other dysplasias such as Camurati-Engelmann disease, Van Buchem's dysplasia and craniotubular dysplasias.7 In Camurati-Engelmann, the degree of cranio-facial involvement is mild with major changes in long bones. In Van Buchem's dysplasia, mandibular enlargement is the predominant manifestation, head circumference is normal and facial changes manifest in the second decade. In craniotubular dysplasia, there is metaphyseal widening and cortical thinning giving rise to club-shaped configuration of long bones whereas in craniodiaphyseal dysplasia the diaphyseal widening gives rise to cylindrical appearance, however, the skull changes are nearly the same except for prominence of the supra-orbital ridge.
1. Gorlin RJ, Spranger J, Koszalka MF. Genetic craniotubular bone dysplasias and hyperostosis: A critical analysis Birth Defects. 1969;5:79–95
2. Schaefer B, Stein S, Oshman D, Rennert O, Thurnau G, Wall J, et al Dominantly inherited craniodiaphyseal dysplasia: A new craniotubular dysplasia Clin Genet. 1986;30:381–91
3. McHugh DA, Rose GE, Garner A. Nasolacrimal obstruction and facial bone histopathology in craniodiaphyseal dysplasia Br J Ophthalmol. 1994;78:501–3
4. Halliday J. A rare case of bone dystrophy Br J Surg. 1949;37:52–63
5. Joseph R, Lefebvre J, Guy E, Job JC. Dysplasie craniodiaphysaire progressive. Ses relations avec la dysplasia diaphysarire progressive de Camurati-Engelmann Ann Radiol. 1958;1:477–90
6. Brueton LA, Winter RM. Craniodiaphyseal dysplasia J Med Genet. 1990;27:701–6
7. Janssens K, Thompson E, Vanhoenacker F, Savarirayan R, Morris L, Dobbie A, et al Macrocephaly and sclerosis of the tubular bones in an isolated patient: A mild case of craniodiaphyseal dysplasia? Clin Dysmorphol. 2003;12:245–50