Journal of Pediatric Ophthalmology and Strabismus

The Early Management of a Baby With Hallermann-Streiff-Francois Syndrome

Suzy Ronen, MD; Yaacov Rozenmann, MD; Meir Isaacson, MD; Michael Amit, MD; Norman Bier, DSc

Abstract

The Hallerman-Streiff-Francois syndrome (HSF),1'' also called mandibulo-oculo-facial dyscephaly, is a relatively rare syndrome, involving mainly the face, eyes, and skin. The ectodermal dysplasia and abnormal development of the first and second branchial arches4 cause in HSF syndrome a typical "bird-like" appearance of the face, due to marked hypoplasia of the mandibule and a "parrot-beak" nose. In addition to microphthalmos and congenital cataract, also present are dental anomalies, hypotrichosis, cutaneous atrophy, and proportionate dwarfism, all of which constitute the main features of this syndrome.5 Other possible features, mainly ocular, which have been described in the literature,7"" lead to visual handicap, one of the main problemstobe overcome in this syndrome. This point is vitally important since many of the affected children may otherwise function quite normally.

The aim of this report is to draw attention to the importance of creating possibilities for visual rehabilitation in one such child, already condemned to great developmental difficulties. This has been brought about through cataract surgery and special contact lens fitting to a markedly malformed eye.

CASE REPORT

The findings, on physical examination, were as follows: intrauterine growth retardation, bird face with micrognatia, microcephaly with asymmetric skull and frontal bossing. There were dental anomalies with two teeth present at birth and high arched palate. The ears were low set with deformities of the auricles (Fig. 1). The abnormalities of the genitalia entailed a small penis with undescended testes. Xray skeletal survey revealed rarefaction of bones. The IVP was normal. Results of screening tests for chromosomal anomalies, aminoacidopaties, endocrinopaties, and intrauterine infection proved negative.

Ophthalmie examination on the second day of life revealed: hypotrichosis of the eyebrows and eyelashes, entropion and trichiasis of the upper lids, and bilateral microphthalmia of 12 mm measured by ultrasonography. The corneas were clear, 7 mm in diameter, having the configuration of microkeratoglobus (Fig. 2). The sclera showed blue discoloration. Although the irides were bulging forward due to posterior synechiae, the anterior chambers were diagnosed as deep because of the steep corneal curvature. The pattern of the blood vessels in the irides was clearly visible, secondary to the anterior iris stromal atrophy. The lenses had lost their anatomical structure and had the appearance of thick membranous cataracts, obscuring all view of the ocular fundi. The intraocular pressure, measured by Perkins hand held applanation tonometer, was 15 mm Hg in both eyes.

No definite response to light was observed, but the electrophysiological tests (ERG and VEP) showed functioning retinae and some visual evoked response. At the age of 5 weeks bilateral discission of the cataract was undertaken and good openings of about 2 mm were achieved (Fig. 3). There were no inflammatory changes after the operation. The baby responded markedly to light by closure of the lids and even by crying and turning the head away from the light source. At this stage, at the age of 2 months, it was decided that contact tenses might offer the best possibility for visual correction and development. The baby was fitted with special hard contact lenses (Fig. 3). A nurse was trained to insert and remove them. After a period of three months, the baby was able to wear the lenses during all his waking hours. At the age of 9 months, it was difficult to judge objectively the visual development because of the severe psychomotor retardation. Nevertheless it was obvious that while wearing the contact lenses the baby followed the movements of some objects.

DISCUSSION

The diagnosis of HSF was readily established because of the classical appearance of most of the signs of the syndrome. In spite of the malformations, the general condition of…

The Hallerman-Streiff-Francois syndrome (HSF),1'' also called mandibulo-oculo-facial dyscephaly, is a relatively rare syndrome, involving mainly the face, eyes, and skin. The ectodermal dysplasia and abnormal development of the first and second branchial arches4 cause in HSF syndrome a typical "bird-like" appearance of the face, due to marked hypoplasia of the mandibule and a "parrot-beak" nose. In addition to microphthalmos and congenital cataract, also present are dental anomalies, hypotrichosis, cutaneous atrophy, and proportionate dwarfism, all of which constitute the main features of this syndrome.5 Other possible features, mainly ocular, which have been described in the literature,7"" lead to visual handicap, one of the main problemstobe overcome in this syndrome. This point is vitally important since many of the affected children may otherwise function quite normally.

The aim of this report is to draw attention to the importance of creating possibilities for visual rehabilitation in one such child, already condemned to great developmental difficulties. This has been brought about through cataract surgery and special contact lens fitting to a markedly malformed eye.

CASE REPORT

The findings, on physical examination, were as follows: intrauterine growth retardation, bird face with micrognatia, microcephaly with asymmetric skull and frontal bossing. There were dental anomalies with two teeth present at birth and high arched palate. The ears were low set with deformities of the auricles (Fig. 1). The abnormalities of the genitalia entailed a small penis with undescended testes. Xray skeletal survey revealed rarefaction of bones. The IVP was normal. Results of screening tests for chromosomal anomalies, aminoacidopaties, endocrinopaties, and intrauterine infection proved negative.

Fig. I. Head and facial features. Note the dyscephaly, microphthalmos, micrognatia, neonatal teeth, low set ears.

Fig. I. Head and facial features. Note the dyscephaly, microphthalmos, micrognatia, neonatal teeth, low set ears.

Fig. 2. Microkeratoglobus. Note the contact /ens in place.

Fig. 2. Microkeratoglobus. Note the contact /ens in place.

Fig. 3. Postsurgical pupillary opening. Contact lens in position.

Fig. 3. Postsurgical pupillary opening. Contact lens in position.

Ophthalmie examination on the second day of life revealed: hypotrichosis of the eyebrows and eyelashes, entropion and trichiasis of the upper lids, and bilateral microphthalmia of 12 mm measured by ultrasonography. The corneas were clear, 7 mm in diameter, having the configuration of microkeratoglobus (Fig. 2). The sclera showed blue discoloration. Although the irides were bulging forward due to posterior synechiae, the anterior chambers were diagnosed as deep because of the steep corneal curvature. The pattern of the blood vessels in the irides was clearly visible, secondary to the anterior iris stromal atrophy. The lenses had lost their anatomical structure and had the appearance of thick membranous cataracts, obscuring all view of the ocular fundi. The intraocular pressure, measured by Perkins hand held applanation tonometer, was 15 mm Hg in both eyes.

No definite response to light was observed, but the electrophysiological tests (ERG and VEP) showed functioning retinae and some visual evoked response. At the age of 5 weeks bilateral discission of the cataract was undertaken and good openings of about 2 mm were achieved (Fig. 3). There were no inflammatory changes after the operation. The baby responded markedly to light by closure of the lids and even by crying and turning the head away from the light source. At this stage, at the age of 2 months, it was decided that contact tenses might offer the best possibility for visual correction and development. The baby was fitted with special hard contact lenses (Fig. 3). A nurse was trained to insert and remove them. After a period of three months, the baby was able to wear the lenses during all his waking hours. At the age of 9 months, it was difficult to judge objectively the visual development because of the severe psychomotor retardation. Nevertheless it was obvious that while wearing the contact lenses the baby followed the movements of some objects.

DISCUSSION

The diagnosis of HSF was readily established because of the classical appearance of most of the signs of the syndrome. In spite of the malformations, the general condition of the baby was quite satisfactory. It is also known, that most HSF cases may reach adult life and some of them may even get married and reproduce,10'" but visual disability still remains to be their main problem.8 That is why we decided to make every endeavor in order to achieve the best chances for visual development. To succeed, this must be undertaken early in life and isas important as the treatment of the other pediatric problems.

The neonatal teeth which produced feeding difficulties and the fact that the parents refused to take their baby home, caused hospitalization of the child for several months. This gave us an opportunity for constant assessment and helped us to treat the baby and follow his development. After investigation it became obvious that the cataract was the main reason of blindness, because the electrophysiological tests indicated functioning retinae and some visual evoked potentials.

There is widespread debate in the literature about cataract surgery in HSF. According to some authors, early surgery should be avoided because of the high rate of complications'1 and the known phenomenon of spontaneous cataract resorption.13 On the other hand, there are reports that the results of cataract surgery are far better than in spontaneous resorption, which may produce glaucoma and blindness."

Because of the importance attached to the development of vision in the early months of life, we preferred not to wait for spontaneous resorption, which can occur in adulthood or not at all,' and chose the course of surgery. In spite of the difficulties which we feared before surgery and which might have arisen because of the malformed eye, the surgical procedure itself as well as the postoperative period passed easily and without complications

At one point it was felt that the steep corneal curve might refractively neutralize the aphakia, leaving virtually an emmetropic state, but the reduced size of the microphthalmia eye finally left a high hyperopic error, which had to be corrected. This correction was undeterminable by skiascopy, which is the reason why we used the following method: for evaluation of the anterior corneal curvature we used special diagnostic trial lenses. In spite of the availability of a large range of steep keratoconus trial lenses, even the steepest back central optic radius was found to be substantially flat. It was finally estimated that the baby's central anterior corneal curvature would be around 4.5 mm in radius. Having already established the total length of the eye and now the central anterior corneal curvature, the correct specifications for the power of the contact lens could be derived. u This was calculated to be +39.00 D. The baby had a tendency at times to open his eyes so wide that the entire cornea would remain exposed, causing the lid margins to hit against both the superior and inferior edges of the contact lens on blinking. For security and to prevent displacement, the lenses were fashioned ultrathin with a reduced optic. In spite of this the right one occasionally displaced itself or even fell out on blinking, and the fit, therefore, had to be tightened.

Apart from their primary purpose for visual correction, the contact lenses also acted protectively against trichiasis.

SUMMARY

The importance of early management of sight in a baby with Hallermann-Streiff-Francois syndrome is described. Surgery for bilateral cataract was performed. Special postcataract contact lenses were fitted.

REFERENCES

1. Hallermann W: Vogelgesicht und Cataracta congenita. Klin MbI Augenheilk 113:315, 1948.

2. Streiff EB: Dysmorphie mandibulo-faciale (tete d'oiseau) et alterations ocularies. Ophthalmologica 120:79, 1950.

3. Francois J: A new syndrome: Dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia and congenital cataract. Arch Ophthalmol 60:842, 1958.

4. Feingold M, Gellis SS: Ocular abnormalities associated with first and second arch syndromes. Surv Ophthalmol 14:30, 1969.

5. Francois J: Syndromes with congenital cataract (XVI Jackson memorial lecture). Am J Ophthalmol 52:207, 1961.

6. lde CH. Webb RW: Haltermann-Streiff syndrome. Am J Ophthalmol 67:151, 1969.

7. Ullrich O, Fremerey-Dohna: Dyskephalie mit Cataracta congenita and hypotrichose als typischer merkmalskomplex. Ophthal mologica 125:73, 1953.

8. Steele RW, Bass JW: Hallermann-Streiff syndrome. Am J Dis Child 120:462, 1970.

9; Aracena T, Sangüesa P: Hallermann-StreiffFrancois syndrome. J Pediatr Ophthalmol 14:373, 1977.

1 0. Ponte F: Further contribution to the study of the syndrome of Hallermann and Streiff. Ophthalmologica 143:399, 1962.

1 1 . Guyard M, Perdriel G, Ceruti F: Sur deux cas de syndrome dyscephalique et tete d'oiseau. Bull Soc Franc Ophtalmol 63:443, 1962.

12. Wolter JR, Jones DH: Spontaneous cataract absorption in Hallermann-Streiff syndrome. Ophthalmologica 150:401, 1965.

13. Hopkins DJ1 Horan EC: Glaucoma in the Hallermann-Streiff syndrome. Br J Ophthalmol 54:416, 1970.

14. Belkin M, Ticho U, Susai A, et al: Ultrasonography in the refraction of aphakic infants. Br J Ophthalmol 57:845, 1973.

10.3928/0191-3913-19790301-09

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