Macular Retinal Detachment in Hallermann-Streiff Syndrome

Two Cases of Hallermann-Streiff Syndrome with Retinal Abnormalities

“…Blair et al published a case showing multiple areas of choroidal leakage on fluorescein angiogram of an 11 years old girl [7]. Serous retinal detachment is reported in some cases with this syndrome following cataract surgery [8][9][10]. Stewart et al found abnormal scleral collagen in this syndrome like in other nanophthalmic cases [11].…”

Two Cases of Hallermann-Streiff Syndrome with Retinal Abnormalities

“…Blair et al published a case showing multiple areas of choroidal leakage on fluorescein angiogram of an 11 years old girl [7]. Serous retinal detachment is reported in some cases with this syndrome following cataract surgery [8][9][10]. Stewart et al found abnormal scleral collagen in this syndrome like in other nanophthalmic cases [11].…”

Hallermann-Streiff Syndrome : A Case Report from Egypt

“…Autosomal dominant inheritance has been suggested in some cases. [3] HSS results from a developmental disturbance that arises between the 5th and 7th week of embryonic life and affects the cephalic ventral extremity at the moment when development of facial bones and of lenses is at the highest degree, thus involving both ectoderm and mesoderm. [6] Numerous inconstant ocular features have been reported, including blue sclera, anti-mongoloid slanting of the palpebral fissures, keratoglobus, iris atrophy, peripheral anterior synechiae, posterior synechiae, persistent pupillary membrane, amorphous retro-lenticular membrane, vitreous opacities, pale optic discs, optic nerve coloboma, chorioretinal pigmentary changes, retinal folds, and glaucoma.…”

Diagnosis, Early Care, and Treatment of Hallermann-Streiff Syndrome: A Review of the Literature

“…allermann-Streiff syndrome (HSS), also known as Francois syndrome, oculomandibulodyscephaly with hypotrichosis, Francois dyscephalic syndrome, oculomandibulofacial syndrome, and Ullrich and Fremerey-Dohna syndrome, is a rare congenital disorder characterized by numerous craniofacial abnormalities. [1][2][3][4] Characteristic features of the condition were first described by Aubry in 1893. 1,5 Hallermann reported a detailed clinical description of the disease in 1948, which was nearly immediately followed by a description by Streiff in 1950.…”

“…However, it was Francois who delineated the chief attributes of HSS in 1958 and who described seven essential signs as diagnostic criteria. 1,[4][5][6] The chief characteristic of HSS include dyscephalia with "bird face," dental anomalies, proportionate nanism, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and congenital cataracts. A brief review of abstracts in PubMed reveals that only approximately 200 cases of the disease have been reported to date.…”

“…13 Congenital cataracts are one of the most common findings, and they often coexist with microphthalmia. 3,4,10,[14][15][16][17][18][19] Surgical correction of cataracts should be undertaken as early as possible to preserve vision. 13,16 In most cases, cataract extractions were performed between ages 5 weeks and 7 months.…”

Two Cases of Hallermann-Streiff Syndrome with Retinal Abnormalities

“…Blair et al published a case showing multiple areas of choroidal leakage on fluorescein angiogram of an 11 years old girl [7]. Serous retinal detachment is reported in some cases with this syndrome following cataract surgery [8][9][10]. Stewart et al found abnormal scleral collagen in this syndrome like in other nanophthalmic cases [11].…”

Hallermann-Streiff Syndrome : A Case Report from Egypt

“…Autosomal dominant inheritance has been suggested in some cases. [3] HSS results from a developmental disturbance that arises between the 5th and 7th week of embryonic life and affects the cephalic ventral extremity at the moment when development of facial bones and of lenses is at the highest degree, thus involving both ectoderm and mesoderm. [6] Numerous inconstant ocular features have been reported, including blue sclera, anti-mongoloid slanting of the palpebral fissures, keratoglobus, iris atrophy, peripheral anterior synechiae, posterior synechiae, persistent pupillary membrane, amorphous retro-lenticular membrane, vitreous opacities, pale optic discs, optic nerve coloboma, chorioretinal pigmentary changes, retinal folds, and glaucoma.…”

Diagnosis, Early Care, and Treatment of Hallermann-Streiff Syndrome: A Review of the Literature

“…allermann-Streiff syndrome (HSS), also known as Francois syndrome, oculomandibulodyscephaly with hypotrichosis, Francois dyscephalic syndrome, oculomandibulofacial syndrome, and Ullrich and Fremerey-Dohna syndrome, is a rare congenital disorder characterized by numerous craniofacial abnormalities. [1][2][3][4] Characteristic features of the condition were first described by Aubry in 1893. 1,5 Hallermann reported a detailed clinical description of the disease in 1948, which was nearly immediately followed by a description by Streiff in 1950.…”

“…However, it was Francois who delineated the chief attributes of HSS in 1958 and who described seven essential signs as diagnostic criteria. 1,[4][5][6] The chief characteristic of HSS include dyscephalia with "bird face," dental anomalies, proportionate nanism, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and congenital cataracts. A brief review of abstracts in PubMed reveals that only approximately 200 cases of the disease have been reported to date.…”

“…13 Congenital cataracts are one of the most common findings, and they often coexist with microphthalmia. 3,4,10,[14][15][16][17][18][19] Surgical correction of cataracts should be undertaken as early as possible to preserve vision. 13,16 In most cases, cataract extractions were performed between ages 5 weeks and 7 months.…”

Two Cases of Hallermann-Streiff Syndrome with Retinal Abnormalities

“…Blair et al published a case showing multiple areas of choroidal leakage on fluorescein angiogram of an 11 years old girl [7]. Serous retinal detachment is reported in some cases with this syndrome following cataract surgery [8][9][10]. Stewart et al found abnormal scleral collagen in this syndrome like in other nanophthalmic cases [11].…”

Hallermann-Streiff Syndrome : A Case Report from Egypt

“…Autosomal dominant inheritance has been suggested in some cases. [3] HSS results from a developmental disturbance that arises between the 5th and 7th week of embryonic life and affects the cephalic ventral extremity at the moment when development of facial bones and of lenses is at the highest degree, thus involving both ectoderm and mesoderm. [6] Numerous inconstant ocular features have been reported, including blue sclera, anti-mongoloid slanting of the palpebral fissures, keratoglobus, iris atrophy, peripheral anterior synechiae, posterior synechiae, persistent pupillary membrane, amorphous retro-lenticular membrane, vitreous opacities, pale optic discs, optic nerve coloboma, chorioretinal pigmentary changes, retinal folds, and glaucoma.…”

Diagnosis, Early Care, and Treatment of Hallermann-Streiff Syndrome: A Review of the Literature

“…allermann-Streiff syndrome (HSS), also known as Francois syndrome, oculomandibulodyscephaly with hypotrichosis, Francois dyscephalic syndrome, oculomandibulofacial syndrome, and Ullrich and Fremerey-Dohna syndrome, is a rare congenital disorder characterized by numerous craniofacial abnormalities. [1][2][3][4] Characteristic features of the condition were first described by Aubry in 1893. 1,5 Hallermann reported a detailed clinical description of the disease in 1948, which was nearly immediately followed by a description by Streiff in 1950.…”

“…However, it was Francois who delineated the chief attributes of HSS in 1958 and who described seven essential signs as diagnostic criteria. 1,[4][5][6] The chief characteristic of HSS include dyscephalia with "bird face," dental anomalies, proportionate nanism, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and congenital cataracts. A brief review of abstracts in PubMed reveals that only approximately 200 cases of the disease have been reported to date.…”

“…13 Congenital cataracts are one of the most common findings, and they often coexist with microphthalmia. 3,4,10,[14][15][16][17][18][19] Surgical correction of cataracts should be undertaken as early as possible to preserve vision. 13,16 In most cases, cataract extractions were performed between ages 5 weeks and 7 months.…”