|Year : 1984 | Volume
| Issue : 3 | Page : 185-186
Syndrome with oculo dento auriculo cerebral malformation
Deptt of Ophthalmology, Silchar Medical College, Silchar, India
Deptt. of Ophthalmology, Silchar Medical College, Silchar
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Bhattacherjee H. Syndrome with oculo dento auriculo cerebral malformation. Indian J Ophthalmol 1984;32:185-6
A number of cases are reported in the literature which are associated with different ocular, dental, auricular and cerebral malformations in different combinations along with different chromosomal abnormalities and with a few first arch syndromes. The present case had specific malformations affecting simultaneously ocular, dental, auricular, and cerebral structures.
| Case report|| |
A 12 years old boy was examined for the complaint of congential absence of the right eye and cosmetic problem arising there off. On careful interrogation to the parents it was revealed that the boy was the out come of 42 weeks of pregnancy of a 26 years old healthy mother (father is 30 years of age). Pregnancy was uneventful except an associated history of failed attempt of inducing abortion with indigenous oral herbal drug at the early fourth month of gestation i.e. after missing of third menstruation cycle. The boy was of second birth rank and his immediate elder sister was suffering from cerebral palsy. Total eleven living members of the family spreading over three generations were examined but none were having any similar abnormality.
On clinical examination of the boy multiple ocular and extraocular abnormalities detected are (a) ocular-tendency towards antimongoloid slant of the palpebral fissures. Comparatively smaller orbit with blepharophimosis, ectropion of the lower lid and gross colobomatous microphthalmos in the right eye [Figure - 1]. Isolated coloboma in the left fundus extending from the ciliary body to the lower part of the optic disc intervening a strip of healthy looking retinal tissue with horizontally oval optic disc and unhealthy macular area. the left eye ball is otherwise normal with a visual acuity of 6/18 [Figure - 2]. (b) Dental
Abnormal dentition characterised by prominent end widely apart first incisor tooth and absence of canine tooth, (c) Auricular Bilateral blind pre auricular sinus, type II bat ear and tongue shaped prolongation of the preauricular hair on the cheek [Figure - 3]. (d)
Cerebral-Mental retardation i.e. motor ability, adoptive behaviour, language development, personal social behaviour all are much below than normal average. Abnormal shyness and neurogenic loss of hearing is also present. The nose of the boy is broad based and prominent [Figure - 1].
| Discussion|| |
This described syndrome was observed sporadically in a boy of a family of which eleven living relatives were examined. The boy had ectodermal neuroectodermal, and mesenchymal alterations associated with bilateral clefting anomaly i.e. persistent pre auricular sinus and colobomatous ocular malformations. Cephalic end localisation of all malformations and gross microphthalmos in the embryologically more mature eye i.e. right eye and isolated coloboma of the less mature eye bear a significant meaning if the aetiologic factor is thought to be a teratogen. All the described malformations of the present case are already reported either in isolated or in various combinations along with different chromosomal syndromes and also along with a few first arch syndromes. But presence of all these specifically described malformations in the same individual is the distinctive feature of this case.
From this single observation mode of inheritance and action of teratogen can't be determined, The mother is having a non specific history of intake of indigenous drug for inducing abortion in early fourth month of gestation but its validity as teratogen can probably be excluded as by third month the organogenesis of the developing embryo is completed.
| Summery|| |
A syndrome with oculo-dento-auriculocerebral malformation is described.
| References|| |
Grolin. R.J. and Pindborg, J.J., 1964. Syndromes of the Head and Neck. New York. McGraw-Hill.
[Figure - 1], [Figure - 2], [Figure - 3]