|Year : 1966 | Volume
| Issue : 3 | Page : 135-137
KC Garg, RC Saxena, KK Bisaria
Department of Ophthalmology, King George's Medical College, Lucknow, U.P, India
|Date of Web Publication||16-Jan-2008|
K C Garg
Department of Ophthalmology, King George's Medical College, Lucknow, U.P
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Garg K C, Saxena R C, Bisaria K K. Craniofacial Dysostosis. Indian J Ophthalmol 1966;14:135-7
Craniofacial dysostosis is an extremely rare deformity to come across. In 1912, Crouzon described this form of osseous dystrophy characterized by a cranial deformity, facial malformation, ocular changes and heredity. This he termed "Hereditary dysostosis craniofacialis." The cranial deformity is a type of brachycephaly, with hypoplasia of superior maxilla and prognathism of the lower jaw. The ocular findings are marked proptosis or severe exophthalmos with hyperteloric eyes associated with marked divergence, choked discs, optic neuritis and secondary optic atrophy. There may be mental deficiency and heredity is frequently reported.
Atkinson, in 1936 reviewing all the cases of the above condition reported since 1912, said that 86 were certain cases were 8 were uncertain. In 5 cases divergence was not mentioned, nystagmus was described in only 6 cases and in 28 or 33% of the cases no mention was made of heredity nor the existence of the disease in any other member of the family.
Vorisek (1941) reported 2 cases of Crouzons disease in whom decompression operation of cranium and orbit was performed with unexpected success in one.
This paper presents a case of Craniofacial dysostosis with no hereditary background.
| Case Report|| |
Patient S. D.. a Hindu, male aged 40 years was first examined in the department of Ophthalmology, King George's Medical college, Lucknow on 1st December 1964 with the chief complaints of progressive diminution of vision from both the eyes for the last 4 years. He stated that abnormal shape of skull, bulging eyes and a pigmented swelling over the bridge of the nose were present since childhood. The divergence of eyeballs however was recent.
His parents and only brother did not suffer from such trouble. He was married.
On examination the patient was of average build. He had tower skull presenting shortened antero-posterior dimension. There was a reducible pigmented swelling over the bridge of the nose extending more towards the right eyeball which was diagnosed as a cavernous angioma. The skin surrounding the swelling showed patches of leucoderma. [Figure - 1],[Figure - 2]. Mentally he did not show any signs of retardation and was alert in conversation.
The nose was resembling a parrot's beak, the region of the upper part of the face showed signs of hypoplasia of maxilla with no teeth. The lower jaw was well developed with preservation of all the teeth. [Figure - 3]
Ocular examination showed proptosis with divergence of the eyeballs, more of the right one. The ocular mobility was restricted in all directions.
The palpebral aperture of the right eye was wide and the bulbar conjunctiva in the lower part was congested. The cornea was normal. The pupil reacted sluggishly to light. Ophthalmoscopic examination showed typical secondary optic atrophy. Vision was counting finger at 1 meter.
The palpebral aperture of the left eye was wider with dryness and congestion in the lower part of bulbar conjunctiva. The lower part of the cornea showed exposure keratitis [Figure - 1]. The pupil was semidilated and reacted very sluggishly. Ophthalmoscopic study revealed typical secondary optic atrophy. Vision was hand movement at 2 feet.
| Investigations|| |
Except for the fact that the haemoglobin was 13.0 gm. % all investigations were non-contributory.
Roentgenographs in addition to tower skull showed thinning of skull tables with marked digitations showing increased intracranial tension. There was hypoplasia of maxilla and prognathism of lower jaw. Teeth in the upper jaw were missing [Figure - 4],[Figure - 5].
| Discussion|| |
This is the first case of craniofacial dysostosis studied here in the past 20 years. This patient was a male aged 40 years. It is surprising that he did not consult any Eye Hospital in the past.
He showed an unusual combination of tower skull with nearly all the typical manifestations of Craniofacial disostosis. This patient, however, did not show any hereditary background as against the classical description by Crouzon. Atkinson in 1936 showed absence of hereditary characteristic in nearly 33%, of the cases collected from literature. Therefore the authors of this paper suggest that heredity in Crouzon's disease should not be a necessary component of this condition and may be called only 'Craniofacial dysostosis'.
This case in addition presented a pigmented reducible cavernous angioma over the bridge of the nose extending more on right side.
Since the vision of the patient was very poor due to secondary optic atrophy and there were no symptom present pertaining to increased intracranial pressure, no surgical interference in the form of decompression was advised. The haemangioma, however, was subjected to electrocoagulation with satisfactory results.
| Summary|| |
A 40 years old male patient of craniofacial dysostosis is reported. The following features gave this patient significant clinical importance.
(I) Absence of hereditary.
(2) A very unusual combination of tower skull with it.
(3) Presence of a cavernous haemangioma since very early child hood.
| References|| |
Atkinson. F. R. B. (1937): The Medical Press. 195, 118.
Crouzon, M. O. (1912), Bull, et. Mem. de la Soc. Med. des. hop. de. Paris. V. 33. p. 545.
Vorisek, Elmer, A. (1941), Amer. J. Ophthal. 24, 1014.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]