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General: Rare; autosomal dominant; disorder of bone metabolism Ocular - Ocular Syndrome and Systemic Diseases, Fourth Edition


General:

Rare; autosomal dominant; disorder of bone metabolism

Ocular:

Bilateral visual loss; choroidal folds; optic nerve head swelling; optic neuropathy; optic nerve meningocele

Clinical:

Facial dysmorphism; progressive platybasia; syringomyelia; curvature of the spine; aplasis of facial sinuses

DiRocco F, Oi S: Spontaneous regression of syringomyelia in Hajdu-Cheney syndrome with severe platybasia. Case report. J Neurosurg 2005; 103: 194-197.

Golnik KC, Kersten RC: Optic nerve head swelling in the Hadju-Cheney syndrome. J Neurophthalmol. 1998; 18: 60-65.

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) 548



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; 16:119-121.

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.

Hallervorden-Spatz Syndrome (pigmentary Degeneration of Globus Pallidus; Progressive Pallidal Degeneration Syndrome 549



General:

Etiology unknown; autosomal dominant; onset between age 7 and 9 years; globus pallidus and pars reticularis of the substantia nigra are involved with demyelinization and degenerative processes; perhaps a form of iron storage disease.

Ocular:

Nystagmus; retinitis pigmentosa; optic nerve atrophy; degeneration of photoreceptors; retinal gliosis; narrowing and obliteration of blood vessels with perivascular cuffing; degeneration of retinal pigment epithelial cells.

Clinical:

Slowly progressing spasticity and rigidity of the extremities; emotional disturbances (pseudobulbar type); dementia; clubfoot; dysphagia; athetosis; dysphonia; choreoathetosis; rigidity; seizures; pyramidal signs; generalized dystonia.

Geeraets WJ. Ocular Syndromes. Philadelphia: Lea & Febiger, 1976.

Hallervorden J, Spatz H. Eigenartige Erkrankung im Extrapyramidalen System mit Besonderer Beteiligung des Globus Pallidus und der Substantia Nigra: Ein Beitrag zu den Beziehungen Zwischen Diesen Beiden Zentren. Z Neurol Psychiatr 1922; 79:254.

Martin JJ, et al. Niemann-Pick disease (Crocker group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrome. Arch Neurol 1972; 27:45.

Orrell RW, et al. Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). Neurology 1995; 45[3 Pt I]: 487-492.

Tripathi RC, et al. Clinicopathologic correlation and pathogenesis of ocular and central nervous system manifestations in Hallervorden-Spatz syndrome. Acta Neuropathol 1992; 83:113-119.

Hallgren Syndrome (Retinitis Pigmentosa-Deafness-Ataxia Syndrome; Usher Syndrome Type I) 550



General:

Autosomal recessive inheritance.

Ocular:

Horizontal nystagmus (10%); cataract; retinitis pigmentosa; retinal atrophy; narrow retinal vessels; optic atrophy; keratoconus.

Clinical:

Congenital deafness (complete or at least severe auditory impairment); mental deficiency (25%); vestibulocerebellar ataxia (90%); schizophrenia-like symptoms (25%).

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Hallgren B. Retinitis pigmentosa combined with congenital deafness with vestibulocerebellar ataxia and neural abnormality in a proportion of cases: a Clinical and geneticostatistical study. Acta Psychiatr Scand Suppl 1959-1960; 138:1-101.

Kaplan J, et al. Probable location of Usher type I gene on chromosome 14q by linkage with D14S13 (MLJ14 probe). Cytogenet Cell Genet 1991; 58:1988(abst).

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.

Nuutila A. Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher and Hallgren syndromes. J Genet Hum 1970; 18:57.

Hamman-Rich Syndrome (Alveolar Capillary Block Syndrome; Diffuse Pulmonary Fibrosis Syndrome; Rheumatoid Lung Syndrome) 551



General:

Etiology unknown; insidious onset with progressive exertional dyspnea; association with rheumatoid arthritis or scleroderma; autosomal recessive; occurs between age 40 and 50 years.

Ocular:

Xerophthalmia; keratomalacia; retinal venous congestion and engorgement; ischemic retinopathy; cystic macular changes.

Clinical:

Cyanosis; dyspnea; cough; weight loss; clubbing of fingers; high sodium and chloride concentrations in sweat; heart failure.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Hamman L, Rich RR. Acute diffuse interstitial fibrosis of lungs. Bull Johns Hopkins Hosp 1944; 74:177.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Spalter HF. Cystic fibrosis and the eye. J Pediatr Ophthalmol 1971; 8:6.

Haney-Falls Syndrome (Congenital Keratoconus Posticus Circumscriptus Syndrome) 552



General:

Etiology unknown; autosomal dominant or recessive.

Ocular:

Hypertelorism (mild); lateral canthi are displaced upward; myopic astigmatism; sharply localized posterior curvature of the cornea; corneal nebulae.

Clinical:

Mental retardation; retarded growth; broad nose; brachydactyly; pterygium colli; barrel chest.

Haney WP, Falls HF. The occurrence of congenital keratoconus posticus circumscriptus in two siblings presenting a previously unrecognized syndrome. Am J Ophthalmol 1961; 52:53.

Jacobs HB. Posterior conical cornea. Br J Ophthalmol 1957; 41:31.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.

Hanhart Syndrome (Richner Syndrome; Recessive Keratosis Palmoplantaris; Pseudoherpetic
Keratitis; Richner-Hanhart Syndrome; Tyrosinemia II; Tyrosinosis; Pseudodendritic Keratitis) 553



General:

Autosomal recessive; consanguinity.

Ocular:

Excess tearing; photophobia; dendritic lesions of the cornea with corneal sensitivity not affected; keratitis; papillary hypertrophy of conjunctiva; corneal haze; neovascularization of cornea; cataract; nystagmus.

Clinical:

Dyskeratosis palmoplantaris; diffuse keratosis; dystrophy of nails; hypotrichosis; mental retardation (usually pronounced); sensorineural hearing loss.

Bardelli AM, et al. Familial tyrosinaemia with eye and skin lesions. Presentation of two cases. Ophthalmologica 1977; 175:5-9.

Bienfang DC, et al. The Richner-Hanhart syndrome: report of a case with associated tyrosinemia. Arch Ophthalmol 1976; 94: 1133-1137.

Burns RP, et al. Keratopathy in tyrosinemia. Birth Defects 1976; 12:169-180.

Chandra Sekhar HK. Hanhart's syndrome with special reference to temporal bone findings. Ann Otol Rhinol Laryngol 1987; 96:309-314.

Charlton KH, et al. Keratitis and systemic tyrosinemia. Ophthalmology 1981; 88:355-360.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Goldsmith LA, Reed J. Tyrosine-induced eye and skin lesions: a treatable genetic disease. JAMA 1976; 236:382-384.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.

Hansen Disease (Leprosy) 554



General:

Communicable disease caused by Mycobacterium leprae.

Ocular:

Keratitis; leukoma; pannus; corneal ulcer; uveitis; iris atrophy; dacryocystitis; anisocoria; multiple pupils; decreased or absent pupillary reaction to light; paralysis of seventh nerve; episcleritis; blepharospasm; lagophthalmos; madarosis; secondary glaucoma; decreased intraocular pressure; subconjunctival fibrosis; punctate epithelial keratopathy; posterior subcapsular cataract; corneal hypesthesia; prominent corneal nerves; iridocyclitis; foveal avascular keratitis; scleritis; interstitial keratitis; iris pearls; dry eye.

Clinical:

Disease affects primarily the skin, mucous membrane, and peripheral nerves.

Binford CH, et al. Leprosy. JAMA 1982; 247:16.

Dana MR. Ocular manifestations of leprosy in a noninstitutionalized community in the United States. Arch Ophthalmol 1994; 112:626-629.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Hornblass A. Ocular leprosy in South Vietnam. Am J Ophthalmol 1973; 75:478.

Schwab IR, et al. Leprosy in a trachomatous population. Arch Ophthalmol 1984; 102:240-244.

Sekhar GC, et al. Ocular manifestations of Hansen's disease. Doc Ophthalmol 1994; 87:211-221.

Shields JA, et al. Ocular findings in leprosy. Am J Ophthalmol 1974; 77:880-890.

Happy Puppet Syndrome (Puppet Children) 555



General:

Etiology unknown; very rare form of infantile epilepsy.

Ocular:

Optic atrophy; deficiency of choroidal pigment; lightly colored irides; Brushfield spots; retinal pigment epithelium abnormalities; heterotropia; blindness.

Clinical:

Mental retardation; seizures; puppet-like ataxia; paroxysms of laughter; absent speech; microcephaly; horizontal occipital depression; brachycephaly; prognathism, abnormal electroencephalographic findings.

Angelman H. "Puppet" children: a report on three cases. Dev Med Child Neurol 1965; 7:681-688.

Bower BD, Jeavons PM. The "happy puppet" syndrome. Arch Dis Child 1967; 42:298-302.

Massey JY, Roy FH. Ocular manifestations of the happy puppet syndrome. J Pediatr Ophthalmol 1973; 10:282-284.

Harboyan Syndrome (Congenital Corneal Dystrophy and Sensorineural Hearing Loss; Maumenee Syndrome; Corneal Dystrophy, Congenital Hereditary Endothelial) 556



General:

Autosomal recessive; both sexes affected; corneal edema present at birth; slow and progressive; both dominant and recessive forms of this disorder have been described.

Ocular:

Bluish-white opacities of cornea with normal sensitivity and no vascularization; nystagmus; keratoconus.

Clinical:

Sensorineural hearing loss with childhood onset.

Harboyan A, et al. Congenital corneal dystrophy, progressive sensorineural deafness in a family. Arch Ophthalmol 1971; 85:27-32.

Kirkness CM, et al. Congenital hereditary corneal edema of Maumenee: Its Clinical features, management and pathology. Br J Ophthalmol 1987; 71:130-144.

Maumenee AE. Congenital hereditary corneal dystrophy. Am J Ophthalmol 1960; 50:1114-1124.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.

Regenbogen LS, Coscas GJ. Oculo-auditory syndromes. New York: Masson, 1985.

Harlequin Syndrome (Bullous Ichthyosiform Erythroderma; Collodion Baby; Congenital Ichthyosis; Epidermolytic Hyperkeratosis; Ichthyosis; Ichthyosis Vulgaris; Lamellar Ichthyosis; Nonbullous Ichthyosiform Erythroderma; Xeroderma; X-Linked Ichthyosis) 557



General:

Autosomal inherited disorder; affects both sexes; normal at birth; onset within first 7 days.

Ocular:

Keratopathy; corneal scarring; keratitis; conjunctivitis; lagophthalmos; photophobia; ectropion; lid erythema; lacrimation.

Clinical:

At birth, the skin surface is moist, red, and tender; within several days, thick verrucous scales form.

Chua CN, Ainsworth J. Ocular management of harlequin syndrome: photo essay. Arch Ophthalmol 2001; 119: 454-455.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Frost P. Disorders of cornification. In: Moschella SL, et al., eds. Dermatology. Philadelphia: WB Saunders, 1975: 1056-1084.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Orth DH, et al. Collodion baby with transient bilateral lid ectropion. Review of ocular manifestations of ichthyosis. Arch Ophthalmol 1974; 91:206-207.

Hartnup Syndrome (pellagra-Cerebellar Ataxia-Renal Aminoaciduria Syndrome; H Disease; Niacin Deficiency) 558



General:

Recessive; inborn error in amino acid metabolism with abnormal metabolism of tryptophan; both sexes affected; presents from infancy.
2014-07-19 18:44
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