Ocular movement disturbances in a family with trisomy 22 syndrome

J. Sebestyen, K. Méhes

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Three members of a family with 'cat eye' syndrome showed deletion and partial trisomy syndrome of chromosome 22. There was no iris coloboma in the 3 cases. Anal atresia was seen in 1. Characteristic preauricular fistulae, antimongoloid palpebral fissures, epicanthus folds, a slight hypertelorism and mental retardation were observed in 2 patients. Divergent and vertical strabismus were observed in all 3 patients with paretic signs and with V or X syndrome. Congenital dismetric nystagmus was found in 1 case and ocular torticollis in 2 cases.

Original languageEnglish
Pages (from-to)360-371
Number of pages12
JournalOphthalmologica
Volume166
Issue number5
Publication statusPublished - 1973

Fingerprint

Eye Movements
Congenital Nystagmus
Imperforate Anus
Hypertelorism
Coloboma
Exotropia
Ocular Motility Disorders
Trisomy
Iris
Eyelids
Intellectual Disability
Fistula
Trisomy Chromosome 22
Schmid-Fraccaro syndrome

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Ocular movement disturbances in a family with trisomy 22 syndrome. / Sebestyen, J.; Méhes, K.

In: Ophthalmologica, Vol. 166, No. 5, 1973, p. 360-371.

Research output: Contribution to journalArticle

@article{2ead76dba16b49b7b1dd38ce7ed44ec9,
title = "Ocular movement disturbances in a family with trisomy 22 syndrome",
abstract = "Three members of a family with 'cat eye' syndrome showed deletion and partial trisomy syndrome of chromosome 22. There was no iris coloboma in the 3 cases. Anal atresia was seen in 1. Characteristic preauricular fistulae, antimongoloid palpebral fissures, epicanthus folds, a slight hypertelorism and mental retardation were observed in 2 patients. Divergent and vertical strabismus were observed in all 3 patients with paretic signs and with V or X syndrome. Congenital dismetric nystagmus was found in 1 case and ocular torticollis in 2 cases.",
author = "J. Sebestyen and K. M{\'e}hes",
year = "1973",
language = "English",
volume = "166",
pages = "360--371",
journal = "Ophthalmologica",
issn = "0030-3755",
publisher = "S. Karger AG",
number = "5",

}

TY - JOUR

T1 - Ocular movement disturbances in a family with trisomy 22 syndrome

AU - Sebestyen, J.

AU - Méhes, K.

PY - 1973

Y1 - 1973

N2 - Three members of a family with 'cat eye' syndrome showed deletion and partial trisomy syndrome of chromosome 22. There was no iris coloboma in the 3 cases. Anal atresia was seen in 1. Characteristic preauricular fistulae, antimongoloid palpebral fissures, epicanthus folds, a slight hypertelorism and mental retardation were observed in 2 patients. Divergent and vertical strabismus were observed in all 3 patients with paretic signs and with V or X syndrome. Congenital dismetric nystagmus was found in 1 case and ocular torticollis in 2 cases.

AB - Three members of a family with 'cat eye' syndrome showed deletion and partial trisomy syndrome of chromosome 22. There was no iris coloboma in the 3 cases. Anal atresia was seen in 1. Characteristic preauricular fistulae, antimongoloid palpebral fissures, epicanthus folds, a slight hypertelorism and mental retardation were observed in 2 patients. Divergent and vertical strabismus were observed in all 3 patients with paretic signs and with V or X syndrome. Congenital dismetric nystagmus was found in 1 case and ocular torticollis in 2 cases.

UR - http://www.scopus.com/inward/record.url?scp=0015855860&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0015855860&partnerID=8YFLogxK

M3 - Article

C2 - 4730727

AN - SCOPUS:0015855860

VL - 166

SP - 360

EP - 371

JO - Ophthalmologica

JF - Ophthalmologica

SN - 0030-3755

IS - 5

ER -