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Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. 1994

M R Passos-Bueno, and S K Marie, and M Monteiro, and I Neustein, and M R Whittle, and M Vainzof, and M Zatz
Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Brazil.

Knobloch syndrome is a rare genetic disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment and occipital cephalocele. The inheritance has been described as autosomal recessive (AR) but in addition to the original report with 5 affected patients [Knobloch and Layer, 1971] only one other family with 2 affected sibs has been described [Czeizel et al., 1992]. We have studied a large consanguineous kindred in which there are 12 patients with severe ocular alterations associated with a congenital occipital encephalocele, compatible with the diagnosis of Knobloch syndrome. CT scan and MRI performed in one of the patients, allowed a better understanding of the cranial and ocular alterations in this syndrome. The pattern of occurrence in this highly inbred family clearly confirms autosomal recessive inheritance of Knobloch syndrome.

UI MeSH Term Description Entries
D008297 Male Males
D009216 Myopia A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. Nearsightedness,Myopias,Nearsightednesses
D009777 Occipital Bone Part of the back and base of the CRANIUM that encloses the FORAMEN MAGNUM. Basilar Bone,Basilar Bones,Bone, Basilar,Bone, Occipital,Bones, Basilar,Bones, Occipital,Occipital Bones
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D012162 Retinal Degeneration A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304) Degeneration, Retinal,Degenerations, Retinal,Retinal Degenerations
D001938 Brazil A country located on the eastern coast of South America, located between Colombia and Peru, that borders the Atlantic Ocean. It is bordered on the north by Venezuela, Guyana, Suriname, and French Guiana, on the south by Uruguay, and on the west by Argentina. The capital is Brasilia.
D003241 Consanguinity The magnitude of INBREEDING in humans. Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D004388 Dura Mater The outermost of the three MENINGES, a fibrous membrane of connective tissue that covers the brain and the spinal cord. Falx Cerebelli,Falx Cerebri,Pachymeninx,Tentorium Cerebelli
D004677 Encephalocele Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. Frontal Encephalocele,Hernia, Cerebral,Occipital Encephalocele,Acquired Encephalocele,Bifid Cranium,Cephalocele,Cerebellar Hernia,Cerebellar Herniation,Cranial Meningoencephalocele,Craniocele,Cranium Bifidum,Encephalocele, Acquired,Encephalocele, Frontal,Encephalocele, Occipital,Encephalocele, Sincipital,Notoencephalocele,Sincipital Encephalocele,Tonsillar Hernia,Tonsillar Herniation,Acquired Encephaloceles,Bifid Craniums,Bifidum, Cranium,Bifidums, Cranium,Cephaloceles,Cerebellar Hernias,Cerebellar Herniations,Cerebral Hernia,Cerebral Hernias,Cranial Meningoencephaloceles,Cranioceles,Cranium Bifidums,Cranium, Bifid,Craniums, Bifid,Encephaloceles,Encephaloceles, Acquired,Encephaloceles, Frontal,Encephaloceles, Occipital,Encephaloceles, Sincipital,Frontal Encephaloceles,Hernia, Cerebellar,Hernia, Tonsillar,Hernias, Cerebellar,Hernias, Cerebral,Hernias, Tonsillar,Herniation, Cerebellar,Herniation, Tonsillar,Herniations, Cerebellar,Herniations, Tonsillar,Meningoencephalocele, Cranial,Meningoencephaloceles, Cranial,Notoencephaloceles,Occipital Encephaloceles,Sincipital Encephaloceles,Tonsillar Hernias,Tonsillar Herniations
D005260 Female Females

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