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

Kaynakça

1. Hallermannn W. Vogelgesicht und cataractacongenita. Klin Monatsbl Augenheilkd. 1948;113:315-318.
2. Streiff EB. Mandibulofacial dysmorphia with ocular abnormalitie. Ophthalmologica. 1950;120:79-83.
3. François J, Victoria-Troncoso V. François’ dyscephalic syndrome and skin manifestations. Ophthalmologica. 1981;183:63-67.
4. Steele RW, Bass JW. Hallermann-Streiff syndrome. Clinical and prognostic considerations. Am J Dis Child. 1970;120:462-465.
5. Warburg, M. Personal Communication. Copenhagen, Denmark 1971.
6. Grattan CE, Liddle BJ, Willshaw HE. Atrophic alopecia in the Hallermann-Strieff syndrome. Clin Exp Dermatol. 1989;14:250-252.
7. Cohen MM Jr. Hallermann-Streiff syndrome: A review. Am J Med Genet. 1991;41:488-499.
8. Robinow M. Respiratory obstruction and corpulmonale in the Hallermann-Streiff syndrome. Am J Med Genet. 1991;41:515-516.

9. Hou JW. Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. Acta Paediatr. 2003;92:869-871.
10. Neki AS. Hallermann-Streiff syndrome. Indian J Ophthalmol. 1993;41:83-84.