Journal of Postgraduate Medicine
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CASE REPORT
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Year : 1995  |  Volume : 41  |  Issue : 1  |  Page : 22-3  

Hallerman-Streiff syndrome.

AD Nicholson, S Menon 
 Dept of Ophthalmology, LTM Medical College, Sion, Bombay.

Correspondence Address:
A D Nicholson
Dept of Ophthalmology, LTM Medical College, Sion, Bombay.

Abstract

A 3 day old female neonate with Hallerman Streiff Syndrome presented with white spots in both the eyes. Both eyebrows and eyelashes were found to be sparse. Anterior chamber was found to be shallow. Total cataract was detected with posterior synechiae. Fundus could not be viewed. General examination revealed other features of Hallerman-Streiff Syndrome--short stature, bird like face, atrophy of skin and natal teeth. Lensectomy was carried out for left eye at the age of 10 weeks. However, the child had repeated respiratory tract infections and died at the age of 22 weeks.



How to cite this article:
Nicholson A D, Menon S. Hallerman-Streiff syndrome. J Postgrad Med 1995;41:22-3


How to cite this URL:
Nicholson A D, Menon S. Hallerman-Streiff syndrome. J Postgrad Med [serial online] 1995 [cited 2019 Dec 12 ];41:22-3
Available from: http://www.jpgmonline.com/text.asp?1995/41/1/22/471


Full Text




  ::   IntroductionTop


Hallerman Streiff is a rare syndrome affecting chiefly the head and face. Patients show a birdlike face, dental abnormalities with ocular abnormalities. We report here a neonate with this condition who presented with bilateral congenital cataract and natal teeth.


  ::   Case reportTop


DS, a 3-day-old female neonate presented with white spots in both the eyes, first noticed by the mother. The child was born after an uncomplicated full term pregnancy of non-consanguinous marriage with a birth weight of 1.75 kg.

Examination of both eyes revealed that the baby had sparse eyebrows and eyelashes [Figure:1]. There was a mild antimongoloid slant. Horizontal corneal diameter was 10.5 mm. Sclera appeared bluish. Anterior chamber was shallow in both the eyes and there was total congenital cataract with posterior synechiae.

Pupils were not responsive due to synechiae. Intraocular pressure was normal in both eyes. Fund-us was not seen due to total cataract. There was no evidence of squint. Ultrasonography of both eyes revealed a normal posterior segment.

General examination revealed head circumference of 33 cms; CR Length - 30 cms, total Length - 41 cms., upper segment - 29 cms and lower segment - 12 cms. The baby had typical retrognathia and beak shaped nose. Skin of the face appeared atrophic. The mouth and tongue appeared small and palate was high arched. Examination of the oral cavity demonstrated 4 yellowish discoloured natal teeth in upper jaw and similar 3 teeth in lower jaw, along with pus pockets [Figure:2]. Rest of the general examination was unremarkable. The baby underwent teeth extraction immediately, At the age of 10 week, she underwent lensectomy of left eye.

She developed repeated respiratory tract infections and expired at the age of 22 weeks.


  ::   DiscussionTop


Hallerman Streiff syndrome is a rare syndrome, which involves multiple congenital abnormalities affecting chiefly the head and face. It seems that the first record of this disorder was made by Aubry[1] in 1893. By 1968, 63 cases had been published[2]. The syndrome described probably results from a developmental disorder, which arises in the course of the 5th to 6th gestational week. The most likely hypothesis is that of a single mutant gene (dominant) with most cases representing fresh mutations. Jules Francois analysed 21 cases and reported 7 essential signs for what he regarded as a 'new syndrome' to be linked into the long chain of heredity of ectodermal dysplasias[3]. These signs are 1. Dyscephalia and bird face; 2. dental abnormalities; 3. proportionate short stature: 4, hypotrichosis; 5. Atrophy of skin especially on nose; 6. bilateral microphthalmos and; 7. congenital cataract.

The present patient revealed all these abnormalities except microphthalmos. Though microphthalmos and congenital cataract are common abnormalities, there have been other uncommon abnormalities which are reported.

We observed in addition to total cataract, sparse hair on eyebrows and eyelashes, antimongoloid slant of palpebral fissures, blue sclera and posterior synechiae in the present case.

Several other uncommon features like distichiasis. ptosis, iris atrophy, peripapillary choroidal atrophy, cherry red spot at macula, pale discs, and coloboma at the entrance of optic nerve have been reported[1], but in the present child we have not noted these features. The peculiar physiognomy and shortness of stature may impair their physiologic adjustment though the major handicap is the ocular defect, which usually culminates in blindness despite surgery.

Early death, as in our patient due to respiratory difficulties is known to occur in these patients[4].

Recently a defect of elastin and abnormal glycoprotein metabolism has been reported. Several pairs of affected siblings have also been reported, suggesting autosomal recessive inheritance[5].

References

1 Warkany J. Congenital Malformations Notes and Comments. Year Book Medical publications; 1971, pp 390.
2Casperson I, Warburg M. Hallerman Streiff syndrome. Acta Ophthalmol 1968; 46:385.
3Francois J. A New Syndrome. Arch Ophthalmol 1958; 60:812842.
4Jones KL. Smith's Recognisable Patterns of Human Malformations, 4th ed. Philadelphia: WB Saunders Co; 1988: 102103.
5Buyse HL. Birth Defects Encyclopaedia. Dover: Blackwell Sci Pub Inc; 1990, pp 12781279.

 
Thursday, December 12, 2019
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