Vision Development in a Hallermann-Streiff Case with Bilateral Severe Microphthalmia, Cataract and Extensive Retinal Folds

Introduction

Hallermann-Streiff syndrome (HSS), also known as oculo-mandibulo-facial syndrome or François dyscephalic syndrome, is an extremely rare congenital developmental disorder, first described by Aubry in 1893 and later further delineated as a distinct entity by Hallermann (1948) and Streiff (1950) [1]. Its prevalence is estimated to be around 0.96 – 1.28 per 10 million in Japan, which can be converted to a presumptive incidence of 1 in 3 – 4 millions live births per year according to the relevant Japanese demographic statistics and a putative average HSS mortality of 30% [2]. Boys and girls are equally affected and usually diagnosed during the first months of life based on the presence of 7 cardinal signs described by François, namely, dyscephalia with birdlike facies, dental abnormalities, proportionate short stature, atrophy of skin (especially on the nose), alopecia and hypotrichosis (including eyebrows and eye lashes), bilateral microphthalmia, and bilateral congenital cataract [1]. Mental development is usually normal [1], [3].

Publication History

Received: 29 October 2023

Accepted: 13 November 2023

Article published online:
23 April 2024

• References

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