|Year : 1979 | Volume
| Issue : 2 | Page : 59-62
Congenital cataract with multiple congenital anomalies in a Sibship
SC Karandikar, DL Maria, BS Kamble
Department of Ophthalmology, Medical College, Aurangabad, India
S C Karandikar
Department of Ophthalmology, Medical College, Aurangabad
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Karandikar S C, Maria D L, Kamble B S. Congenital cataract with multiple congenital anomalies in a Sibship. Indian J Ophthalmol 1979;27:59-62
|How to cite this URL:|
Karandikar S C, Maria D L, Kamble B S. Congenital cataract with multiple congenital anomalies in a Sibship. Indian J Ophthalmol [serial online] 1979 [cited 2021 Jun 20];27:59-62. Available from: https://www.ijo.in/text.asp?1979/27/2/59/31243
Multiple congenital anomalies in the body often of a wide spread nature are sometimes difficult to be classed together under any definite syndrome.
| Case Report|| |
The present report is also concerned about such a family with many siblings showing multiple anomalies. The interesting feature apart from multiple anomalies in this family is the remarkable constancy of features in different members. Many members in the horizontal transmission are the sufferers.
The parents were normal with no history of consanguineous marriage and no congenital anomaly in the families of their origin. All the children were full term. There was no history of stillbirth or abortion. The whole family is shown in [Figure - 1],[Figure - 2],[Figure - 3],[Figure - 4],[Figure - 5].
The constancy of the anomalies include congenital cataracts with squint, mental retardation, affection of genito-urinary tract and ano-rectal anomalies. The clinical features of the afflicted are shown in the [Table - 1] [Figure - 1],[Figure - 2],[Figure - 3],[Figure - 4],[Figure - 5],[Figure 6].
The different investigations like routine haemegram, urine, V.D.R.L. (even of the parents) did not reveal any thing abnormal. The test for homocystinuria was also negative.
All the three afflicted children were already operated upon for imperforate anus and also for congenital cataract. In case number one, there was very slight after-cataract. In the second and third cases the previous needling operations were unsuccessful, so needling with aspiration were done.
| Discussion|| |
The occurrence of multiple anomalies with similarity in different members of a family is of academic interest. The structures involved were widespread including the structures of ectodermal as well as of mesodermal origin. It suggests a dominant inheritance affecting more that fifty percent of sibs of both the sexes. The association of mental retardation, cataract and urogenital anomalies was more less consistent in all the three afflicted children. Rubella infection is well-known for producing multiple congenital defects involving many organs or system. Cataract, mental retardation and urogenital ano malies have been reported in rubella syndrome. However, all the children in the present report were full term normal deliveries, hence the possibility of rubella attack is remote. It is indeed true that the aetiology of most of the congenital defects remains speculative yet a complete geneological study of their families may allow us to fit them in one of the known syndromes or suggest a newer one. The importance of pedigree studies cannot be over emphasized in such cases.
| Summary|| |
The family with multiple congenital anomalies having constant features in different members is presented.
| References|| |
Duke Elder S., 1964, System of Ophthalmology, Vol. III, Part II,
392, 393, Henry Kimptom, London.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]
[Table - 1], [Table - 2]