Hallermann-Streiff Syndrome
(Dyscephalic-Mandibulo-Oculo-Facial Syndrome; Oculo-Mandibulo-Dyscephaly;
Ullrich-Fremery-Dohna Syndrome; Francois Dyscephalic Syndrome; Mandibulo-Oculo-
Facial Dyscephaly Syndrome; Francois-Hallermann-Streiff Syndrome; Hallermann-Streiff-Francois
Syndrome; Audry I Syndrome; Dohna Syndrome; Francois Syndrome (1); Dyscephaly-
Teeth
Abnormality-Dwarfism; Dyscephalia Oculomandibularis-Hypotrichosis;
Mandibulo-Ocular
Dyscephalia Hypotrichosis; Fremery-Dohna Syndrome; Oculo-Mandibulo-Facial Dyscephaly)
General: Rare; familial occurrence and consanguinity; males and females equally affected.
Ocular: Microphthalmos (bilateral); proptosis; nystagmus; strabismus; cataracts; bilateral optic atrophy; coloboma of optic disk, choroid, and iris; keratoglobus; microcornea; antimongoloid slant; iris atrophy; uveitis; blue sclera; persistent pupillary membrane; secondary glaucoma.
Clinical: Malformations of skull (brachycephaly), facial skeleton, and jaws; erupted teeth at birth; diminished hair growth; hyperextensibility of joints; short stature; skin atrophy; mental deficiency; predisposition to upper airway compromise; obstructive sleep apnea.
Francois J, Victoria-Troncoso V. Francois' dyscephalic syndrome and skin manifestations. Ophthalmologica 1981; 183:63-67.
Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.
Hallermann W. Vogelgesicht und Cataracta Congenita. Klin Monatsbl Augenheilkd 1948; 113:315.
Ronen S, et al. The early management of baby with Hallermann-Streiff-Francois syndrome. J Pediatr Ophthalmol Strabismus 1979; 16:119-l21.
Spaepen A, et al. Hallermann-Streiff syndrome: Clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? Am J Med Genet 1991; 41:517-520.
Streiff EB. Dysmorphic Mandibulo-faciale (Tete d'Oiseau) et Alterations Oculaires. Ophthalmologica (Basel) 1950; 120:79.
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