|Year : 1993 | Volume
| Issue : 2 | Page : 83-84
Department of Ophthalmology, Mahatma Gandhi Institute of Medical Sciences, Wardha, Maharashtra, India
A S Neki
52, Hemkunt Colony, New Delhi - 110 048
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Neki A S. Hallermann-Streiff syndrome. Indian J Ophthalmol 1993;41:83-4
The Hallermann-Streiff syndrome, , variously known as sutural congenital alopecia, Francois syndrome, and oculomandibulo dyscephaly, is a rare condition. Until 1981, around 150 cases have been reported.  Since then, another 10 cases have been added. ,,, According to Francois,  the seven essential features of this syndrome are: dyscephaly with birdface, dental anomalies, proportionate nanism, hypotrichosis, atrophy of skin, bilateral microphthalmos, and cataract. The five signs which distinguish this condition from other related mandibulofacial dysostoses and ectodermal aplasia and dysplasia are absence of anomalies of ears and palpebral aperture, nails and extremities, musculo-arthritic anomalies and neuropsychological deficit.
The syndrome occurs sporadically and is usually not associated with chromosomal anomalies. ,sub However, Gerinec et al  have reported the occurrence of this syndrome in two generations; and Schanzlin et al" reported a chromosomal defect associated with it.
The case reported here presented all the essential features of the syndrome with the exception of congenital cataract. Instead, it presented with bilateral absence of lens. Some traces of capsule - like material and fine bands in the anterior vitreous could be seen suggesting absorbed lenses.
| Case report|| |
The case involved a 50 year old Hindu woman, 121 cm in height, weighing 22 kg., and possessing average intelligence. Since early childhood she experienced unsatisfactory vision in both eves. Her birth history was unavailable. All her three sisters reportedly, were normal.
She had a small brachycephalic head, severe alopecia (especially over her temples), micrognathia, parrot-beak nose, total madarosis, wrinkled and delicate skin over her forehead [Figure - 1], drooping shoulders and post-menopausal genital changes.
On ocular examination, flat epicanthic folds, leftbeating nvstagmus and 12osub right exotropia were noted. The eyes were microphthalmic, the sclera was thin and blue, cornea measured 7 mm in both the eves and there were multiple punctate macular opacities in both eyes, the left more than the right eye. The anterior chamber was deep and the iris was pale and smooth in both eyes[Figure - 2]. The pupils were 2 and 3 mm in the right and left eye respectively, not reacting to light and accommodation, and non-responsive to atropinization. Persistant pupillary membrane was present in both eyes, being more prominent in the lower quadrants. Tags were hanging afloat from collarette into the anterior chamber. The lens was absent bilaterally and was suspected to be absorbed. In the vitreous, tags and fine bands were seen anteriorly which could have been capsular remnants. Fundus was normal in both eyes. Visual acuity was improving to 2/60 in the right eye and 6/60 in the left eye with +10.0 D sph. X-ray demonstrated a small skull, hypoplastic mandible and maxilla [Figure - 3].
| Discussion|| |
This case showed bilateral absence of lens. Srivastava et al  reported this observation but there were no capsular remnants or history of surgery. There was poor vision from birth and they concluded that it was due to congenital absence of both lenses. In our case, however, capsular tags were evident on the anterior vitreous, suggesting absorption of both lenses. This corroborates a similar report by Falls and Schull.  Persistent pupillary membranes found in our case have only been reported in three other cases. 
The corneal opacities present in our case were also reported by Srivastava et al , but they were restricted to 3 and 9 '0' clock positions in their case while they were randomly scattered in our case.
Cataract (reported in 26 cases) and chorioretinal atrophy (reported in 3 cases), were absent in this patient.
Most of the features reported individually in the previous cases have, however, been present collectively in our case.
Trivial ear anomalies were observed by us similar to the ones reported by Falls and Schull  and Blodi. 
Acknowlegements : The author acknowledges the valuable assistance of Dr. D. Deshpande and Dr. S. Kamath.
| References|| |
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[Figure - 1], [Figure - 2], [Figure - 3]