A Child with Hallermann-Streiff Syndrome; as an Infrequent Cause of Hypotrichosis and Cataract

Abstract

In present case report, four-months-old boy who referred to our pediatric endocrinology outpatient clinic from department of ophthalmology due to evaluation of endocrine and metabolic disorders for cataract was discussed. The characterized features of patient were hypotrichosis, microphthalmia, nystagmus, strabismus, congenital cataract, beaked nose, micrognathia,
scaphocephaly, frontal and parietal bossing. The case has typical dysmorphic physical examination findings that appropriate diagnostic features to rare Hallermann-Streiff syndrome.

Keywords

• Hallermann Streiff Syndrome; congenital cataract; microphthalmia; hypotrichosis

Medical Science and Discovery

Öz

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