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Year : 1966  |  Volume : 14  |  Issue : 3  |  Page : 135-137

Craniofacial Dysostosis

Department of Ophthalmology, King George's Medical College, Lucknow, U.P, India

Date of Web Publication16-Jan-2008

Correspondence Address:
K C Garg
Department of Ophthalmology, King George's Medical College, Lucknow, U.P
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Source of Support: None, Conflict of Interest: None

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How to cite this article:
Garg K C, Saxena R C, Bisaria K K. Craniofacial Dysostosis. Indian J Ophthalmol 1966;14:135-7

How to cite this URL:
Garg K C, Saxena R C, Bisaria K K. Craniofacial Dysostosis. Indian J Ophthalmol [serial online] 1966 [cited 2024 Mar 5];14:135-7. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?1966/14/3/135/38644

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 Top

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 Top

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 Top

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 Top

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.[3]

  References Top

Atkinson. F. R. B. (1937): The Medical Press. 195, 118.  Back to cited text no. 1
Crouzon, M. O. (1912), Bull, et. Mem. de la Soc. Med. des. hop. de. Paris. V. 33. p. 545.  Back to cited text no. 2
Vorisek, Elmer, A. (1941), Amer. J. Ophthal. 24, 1014.  Back to cited text no. 3


  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]


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