Hallermann-Streiff syndrome (HSS) is a rare disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region;. Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial region, sparse hair. Hallermann-Streiff syndrome is characterized by a typical skull shape ( brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked.
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Hallermann Streiff Syndrome-The Oral Manifestations in a Child | OMICS International
Copyright American Medical Association. Hallermann-Streiff syndrome also known as oculomandibulofacial syndrome is a rare syndrome chiefly comprising facial and ocular abnormalities.
Cataract hallermannn microphthalmos are the most apparent ocular features, but retinal abnormalities may be the primary cause of poor vision.
A 1-week-old girl of European descent was initially seen with bilateral cataracts. She was small for her week gestational age. She exhibited microcephaly with birdlike facies, natal teeth, sparse fine hair, and long hyperextensible fingers consistent with features of Hallermann-Streiff syndrome Figure 1. This patient exhibited hypotrichosis, dyscephalia, birdlike facies, and atrophy of skin especially on the noseconsistent with Hallermann-Streiff steiff also known as oculomandibulofacial syndrome.
Ophthalmologic examination revealed bilateral microphthalmia, horizontal corneal diameters of 6 mm, and bilateral visually significant cataracts preventing view of the ocular fundi. Cataract extractions ssyndrome performed in this patient at 5 and 6 weeks of age. Indirect ophthalmoscopy revealed bilateral macular serous retinal detachments with horizontal retinal folds through the macula, as well as peripapillary and peripheral retinal pigment epithelial mottling Figure 2.
Treatment of uveal effusion syndrome by means of scleral surgery was considered but was declined by the parents. A, The right fundus showed a hyperemic and hypervascular optic nerve with engorged retinal vessels.
There was extensive subretinal fluid in the posterior pole, inferior retinal folds, fine yellow subretinal deposits in the papulomacular bundle, and subretinal fibrotic bands under the detached retina. Except for the posterior retinal pigment epithelium temporal to the fovea, the retinal pigment epithelium exhibited a mottled appearance.
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B, The left fundus had a similar appearance with less vascular engorgement and possible pigment epithelial detachment along the superotemporal vascular arcade. Hallermann-Streiff syndrome was first described by Charles Aubry in These signs are 1 dyscephalia and birdlike facies, 2 dental abnormalities, 3 proportionate short stature, 4 atrophy of skin especially on the nose5 hypotrichosis, 6 bilateral microphthalmos, and 7 cataract.
Most cases of Hallermann-Streiff syndrome are sporadic. Autosomal dominant inheritance has been suggested in some cases.
A fluorescein angiogram without red-free or color photography of an exceptional case diagnosed at 11 years of age showed multiple areas of choroidal leakage. Indeed, a histopathologic case series of 8 eyes with uveal effusion included a case halleermann Hallermann-Streiff syndrome that demonstrated abnormal scleral collagen.
Sclerectomy has been advocated for primary uveal effusion syndrome, but its efficacy in congenital uveal effusion in microphthalmic eyes is unknown.
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Macular Retinal Detachment in Hallermann-Streiff Syndrome
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