|Year : 1979 | Volume
| Issue : 1 | Page : 21-22
MS Boparai1, Balinder Kaur Sohi2, AS Sohi3
1 Dept of Ophthalmology, Command Hospital (Southern Command), Poona, India
2 Dept of Paediatrics, Command Hospital (Southern Command), Poona, India
3 Dept of Dermatology, Command Hospital (Southern Command), Poona, India
M S Boparai
Dept of Ophthalmology, Army Hospital, New Delhi 110010
|How to cite this article:|
Boparai M S, Sohi BK, Sohi A S. Waardenburg's syndrome. Indian J Ophthalmol 1979;27:21-2
Van der Hoeve noticed the palpebral deformity in which there was a wide separation of the inner canthi, while the distance between outer canthi was normal. This combination resulted in blepharophimosis. Subsequently Halbertsma and Waardenburg associated the palpebral deformity with a number of ocular anomalies such as broad and high nasal bridge, hyperplasia of the medial part of the eyebrows, heterochromia of the iris, deafness, pigmentary disturbances in the body and retina and sometimes microphthalmos and its associated defects. This combination has been called the van der Hoeve-Halbertsma-Waardenburg syndrome More Details or more simply Waardenburg's Syndrome,.
Studying pedigrees extending from 2 to 6 generations Waardenburg showed that anomalies were hereditarily transmitted. Pandit reported this syndrome in an Indian family. This case reported by us is one more addition to the list.
| Case Report|| |
An 8 months old female child was brought with history of delayed mile stones. She was born normally at full term of a muslim parents and was the first born of the family. There was no history of illness or drug consumption by the mother during pregnancy. Parents had no abnormality but the paternal grand father had partial albinism.
Examination revealed the child to be well nourished weighing 7 Kg. She could not hold her head but was alert and recognised her mother. Anterior fontanelle admitted tip of one finger and metopic suture was prominent. Bridge of the nose was broad and inner canthi were widely spaced [Figure - 1]. Inferior puncta were placed rather laterally, There was a wedge shaped depigmented patch in iris of the right eye extending from 10° clock to 1° clock, with slightly eccentric pupil Fundii were normal. She had a lock of white hair on right side of the forehead at birth which disappeared after 3 months. Both tympanic membranes were intact but the child could not localise sound. There was no abnormal finding in any other system.
X-ray skull, chest and feet revealed no abnormality.
| Discussion|| |
Waardenburg described 161 cases of the syndrome in 1951. He found the syndrome in 1.4 percent of the congenitally deaf children in Holland and thus worked the incidence to be about 1:42,000. The main abnormalities being lateral displacement of medical canthi, broad and high nasal bridge, partial albinism and deafness. The case described by us has these features, the partial albinism being shown by the white fore lock at birth and patch of depigmentation in the iris.
Waardenburg put forward the possibility that the anomaly of the medial canthi represents an arrest of the development since the configuration corresponds to the embryonic condition at about the beginning of the third month of gestation. The more generalised anomalies were attributed by Fisch to a developmental fault in the neural crests which could account for the absence of the organ of corti and the aplasia of the spiral ganglion found in these patients as well as pigrnentary changes. Although sporadic instances occur the condition is characteristically transmitted as dominant trait. In our case the parents were normal but paternal grandfather had albinism.
Sujatha et al reported a case wherein mucocoele, alopecia and poliosis were additional features. Involvement of the lacrimal sac was probably a coincidental finding but alopecia and poliosis has not previously been reported. We did not find this in our case either.
Porot et al have suggested the addition of epilepsy to the usual symptoms of Waardenburg syndrome. Epilepsy may manifest clinically or may be a purely electrical manifestation on the EEG. We did not however subject our patient to EEG studies and symptomatically there was no history of fits.
Parekh et al have reported a case of this syndrome with ventricular septal defect. Our case however has no congenital cardiac anomaly.
| Summary|| |
An eight months old female child with features of Waardenburg's syndrome has been described. The hetero-chromia of iris is in the form of a sectorial defect. The literature has been reviewed.
| Acknowledgement|| |
We are thankful to Colonel K.D Kapur, Officer commanding Command Hospital (WC) Poona for his kind permission to publish this case.
| References|| |
|1.||Duke Elder. S., System of Ophthamology. Vol III, part 2 congenital deformities, p 1141, Henry Kimpton, London. |
|2.||Fisch, L., 1959, Jour. Laryn. & Otology 73, 35. |
|3.||Halbertsma, 1929, Boll. Oculist, 8, 1320. |
|4.||Pandit, M. M.. Venkatesh, A, and Rao, Triumala, 1967, Ltd Pediat, Vol 4, No 6, 267. |
|5.||Parekh. P, Singh, S.D., Dulhani, J D. and Jain, N.M., 1976, Ind. Pediat, 13, No. 6, 465. |
|6.||Porot, M., Dugas, M and Duplaix, A., 1975, Rev. Neuro. Pspchiat. Infantile, 23. 10. |
|7.||Smith, D.W., 1970, Recognizable patterns of Human Malformation, 7, 142, W.B. Saunder's Company, London. |
|8.||Sujatha, S. and Thomas, A., 1974, Ind. Jour, Ophthal, 22, 3, 24. |
|9.||Van der Hoeve, 1916, Klin. Mb!. Augenheilk, 56, 232. |
|10.||Waardenburg, P.J. 1930, Graefes, Arch. Ophthal, 124, 221. |
|11.||Waardenburg, P.J., 1951, Amer. J. Hum. Genet, 3,195. |
[Figure - 1]