|Year : 1984 | Volume
| Issue : 1 | Page : 35-36
Franceschetti's syndrome with bilateral atresia of lower puncta and canaliculi
VN Prasad, A Ghosh, HK Bist
Department of Ophthalmology, R RD. Medical College, Gorakhpur, India
V N Prasad
Deptt. of Ophthalmology, B.RD. Medical College, Gorakhpur
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Prasad V N, Ghosh A, Bist H K. Franceschetti's syndrome with bilateral atresia of lower puncta and canaliculi. Indian J Ophthalmol 1984;32:35-6
The syndrome of mandibulofacial dysostosis was first described by Thomson and Berry in 1889. Then by Treacher Collins in 1900 and finally the characteristic features of this syndrome were} justified by Frances Chetti. It is a relatively rake congenital anomaly of genetic origin due primarily to a retardation of the maxillary mesoderm derived from the first visceral arch.
In addition to the characteristic features we found bilateral atresia of lower puncta and canaliculi in our cases.
| Case report|| |
A 22 years old male was admitted with the complaints of watering, diminution of vision both eyes and partial deafness since childhood. There was an associated history of seeing coloured hallows off and on. Past, personal and family history was not significant.
On examination there was micrognathia, hypoplasia of cheek bones and atresia of right auditory canal with microtia. Ocular examination revealed antimongoloid obliquity of both palpebral fissure. Both upper lids were S-shaped. The right and left lower eye lids were lagging 3 mm and 4 mm below the limbus respectively. Scanty eyelashes were present in the lower lid. The vision in both eyes was 4/60P, corrected to 6/9 by-10D sph. B.E. Fundus examination revealed myopic crescent in both eyes. Field examination (B jerrum's screen) showed generalised constriction of field. There was no other associated deformity elsewhere in the body.
Routine blood, urine examination were normal. Skiagram skull for paranasal sinuses in erect position showed medium development. Both maxillary sinuses were hazy showing thickened mucus-membrane. Frontal sinus was clear. Towne's and Stenver's view showed accellular temporal bones on both sides. Both mastoid antrunt were hazy. Syringing was done through upper puncta, and it was found patent in both eyes. Dacryocystography through upper puncta was done, which confirmed complete atresia of lower canaliculi and lower puncta in both eyes.
| Discussion|| |
Fully developed anomaly produces a striking picture of a fish like face with sloping palpebral fissure, Sunken-cheek bones, a_ large mouth, a receding chin and the absence of the fronto nasal angle. Various ocular changes have been described associated with this syndrome. They are antimongoloid lid obliquity, lower lid coloboma, iris and or choroid coloboma and microphthalmia. Defects in the glandular structure, tarsus, lashes and orbicularis are reported in the lid region. We found an additional defect in the lid region in form of atresia of puncta and canaliculi of both lower lids. Since any structure in the lid can be deformed hence of puncta and canaliculi is not very surprising and can be attributed to the basic defect of this syndrome which involves the abnormality of the maxillary mesoderm derived from the first visceral arch.
| Summary|| |
A case of Franceschetti s syndrome has been reported. In addition to the characteristic features, bilateral atresia of lower puncta and Dacryocystography, which has not been men
| References|| |
Duke-Elder, S., 1964, System of Ophthalmology, Vol. III, Part 2, p. 1013.
Forfar, J.O., kmeil, G.C., 1978, Test book of Paediatrics, 2nd Edn., p. 1367.
Green, M., Richmond, J.B., 1976, Paediatrics diagnosis, 2nd Edn., p. 35, Saunders.
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