Author | Almeida, José Carlos Cabral de | |
Author | Reis, Dimas F. | |
Author | Llerena Junior, Juan Clinton | |
Author | Barbosa Neto, João | |
Author | Pontes, Ricardo Lopes | |
Author | Middleton, Sonia | |
Author | Telles, Luis Fernando | |
Access date | 2013-03-07T18:23:18Z | |
Available date | 2013-03-07T18:23:18Z | |
Document date | 1991 | |
Citation | ALMEIDA, José Carlos Cabral de et al. Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance. Journal of Medical Genetics, v. 17, n. 4, p. 277-279, 1991. | pt_BR |
ISSN | 1530-0366 | |
URI | https://www.arca.fiocruz.br/handle/icict/6357 | |
Language | eng | pt_BR |
Publisher | British Medical Association | |
xmlui.metadata.dc.relation.isbasedon | Saal HM, Greenstein RM, Weinbaum PJ, Poole AE. Autosomal
recessive Robinow-like syndrome with anterior chamber
cleavage anomalies. AmJI Med Genet 1988;30:709-18. | pt_BR |
xmlui.metadata.dc.relation.isbasedon | Thompson EM, Winter RM. A child with scierocornea, short
limbs, short stature, and distinct facial appearance. Am J Med
Genet 1988;30:719-24. | pt_BR |
xmlui.metadata.dc.relation.isbasedon | Kivlin JD, Feireman RM, Crandall AS, Olson RJ. Peters'
anomaly as a consequence of genetic and non-genetic syndromes.
Arch Ophthalmol 1984;104:61-4. | pt_BR |
xmlui.metadata.dc.relation.isbasedon | Krause U, Koivisto M, Rantakallio P. A case of Peters' syndrome
with spontaneous corneal perforation. J Pediatr Ophthalmol
Strabismus 1%9;6:145-9. | pt_BR |
xmlui.metadata.dc.relation.isbasedon | Van Schooneveld MJ, Dellerman JW, Beemer FA, Bleecker-
Wagemakers EM. Peters'-plus: a new syndrome. Ophthalmic
Paediatr Genet 1984;4:141-6. | pt_BR |
xmlui.metadata.dc.relation.isbasedon | Fryns JP, Van den Berghe H. Corneal clouding, subvalvular
aortic stenosis and midface hypoplasia with mental retardation
and growth retardation. I. Genetic causes of mental retardation.
A personal contribution. Fryns FP. Thesis, Katholieke Universiteit,
Leuven, 1986:377-81. | pt_BR |
xmlui.metadata.dc.relation.isbasedon | Smith D. In: Jones KL, ed. Recognizabk patterns of hunan
malformations. 4th ed. Philadelphia: Saunders. 1988. | pt_BR |
xmlui.metadata.dc.relation.isbasedon | Buder MG, Wadlington WB. Robinow syndrome: report of two
patients and review of the literature. Clin Genet 1987;31:77-85. | pt_BR |
Rights | open access | pt_BR |
Subject in Portuguese | Consanguinidade | pt_BR |
Subject in Portuguese | Córnea | pt_BR |
Subject in Portuguese | Distúrbios de Crescimento | pt_BR |
Subject in Portuguese | Genes Recessivo | |
Title | Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance | pt_BR |
Type | Article | pt_BR |
DOI | 10.1136/jmg.28.4.277 | |
Abstract | Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Universidade do Estado do Rio de Janeiro. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Hospital de Bonsucesso. Rio de Janeiro, RJ, Brasil. | pt_BR |