Ophthalmoplegia-plus

V. Godel; P. Nemet; I. Reider-Groswasser; G. Messer; M. Lazar

doi:10.1007/BF00143339

Ophthalmoplegia-plus

V. Godel^*
, P. Nemet
, I. Reider-Groswasser
, G. Messer
, M. Lazar

^*Corresponding author for this work

Tel Aviv Sourasky Medical Center

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

The occurrence of chronic progressive external ophthalmoplegia, pigmentary retinal dystrophy and cardiac disturbances associated with arachnodactily, sternal deformity, high arched palate and severe myopia is reported. A pedigree analysis of this Jewish-Iranian family strongly suggests that the condition is inherited as autosomal recessive trait. The terminology of the condition and the spectrum of its variable phenotypic expression is described.

Original language	English
Pages (from-to)	373-382
Number of pages	10
Journal	Documenta Ophthalmologica
Volume	51
Issue number	4
DOIs	https://doi.org/10.1007/BF00143339
State	Published - Nov 1981
Externally published	Yes

Keywords

Kearns-Sayre syndrome
autosomal recessive inheritance
chronic progressive external ophthmoplegia
ophthalmoplegia-plus

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10.1007/BF00143339

Cite this

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abstract = "The occurrence of chronic progressive external ophthalmoplegia, pigmentary retinal dystrophy and cardiac disturbances associated with arachnodactily, sternal deformity, high arched palate and severe myopia is reported. A pedigree analysis of this Jewish-Iranian family strongly suggests that the condition is inherited as autosomal recessive trait. The terminology of the condition and the spectrum of its variable phenotypic expression is described.",

keywords = "Kearns-Sayre syndrome, autosomal recessive inheritance, chronic progressive external ophthmoplegia, ophthalmoplegia-plus",

author = "V. Godel and P. Nemet and I. Reider-Groswasser and G. Messer and M. Lazar",

year = "1981",

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AU - Godel, V.

AU - Nemet, P.

AU - Reider-Groswasser, I.

AU - Messer, G.

AU - Lazar, M.

PY - 1981/11

Y1 - 1981/11

N2 - The occurrence of chronic progressive external ophthalmoplegia, pigmentary retinal dystrophy and cardiac disturbances associated with arachnodactily, sternal deformity, high arched palate and severe myopia is reported. A pedigree analysis of this Jewish-Iranian family strongly suggests that the condition is inherited as autosomal recessive trait. The terminology of the condition and the spectrum of its variable phenotypic expression is described.

AB - The occurrence of chronic progressive external ophthalmoplegia, pigmentary retinal dystrophy and cardiac disturbances associated with arachnodactily, sternal deformity, high arched palate and severe myopia is reported. A pedigree analysis of this Jewish-Iranian family strongly suggests that the condition is inherited as autosomal recessive trait. The terminology of the condition and the spectrum of its variable phenotypic expression is described.

KW - Kearns-Sayre syndrome

KW - autosomal recessive inheritance

KW - chronic progressive external ophthmoplegia

KW - ophthalmoplegia-plus

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ER -

Ophthalmoplegia-plus

Abstract

Keywords

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