Schmid-Fraccaro Syndrome

Czech version

Authors: A. Kollárová; N. Mišovicová ^*; Vl. Máliš
Authors‘ workplace: Očná klinika Jesseniovej lekárskej fakultnej nemocnice, Martin, vedúci MUDr. V. Máliš, CSc. *Oddelenie lekárskej genetiky, Martinská fakultná nemocnica, Martin, vedúci MUDr. N. Mišovicová, CSc.
Published in: Čes. a slov. Oftal., , 1999, No. 6, p. 362-366
Category:

Overview

The authors describe a female patient with bilateral colobomatous malformationsof the uvea in conjunction with anorectal atresia and other symptoms suggestingSchmid-Fraccaro’s syndrome called also cat eye syndrome.Using fluorescent hybridization in situ, the authors identified the supernumerousbisatellite marker chromosome derived from chromosome 22 which made itpossible to confirm the suspected diagnosis.

Key words:
colobomatous malformations of the uvea, anorectal atresia, fluorescenthybridization in vitro

Full text is not available online.

If interested in a scan of this journal, contact NTO ČLS JEP.

Labels

Ophthalmology

Changes of Visual Functions in Myopes Twelve Months after PhotorefractiveKeratectomy

Hereditary Occurrence of Deep Excavations of the Optic Nerve with Best´s RetinalDystrophy

Removal of Silicone Oil from Eyes after Vitrectomy

Clinical Results of 100 Penetrating Keratoplasties

Tears Of The Retinal Pigment Epithelium (Case Report)

Measuring of Lamella Adhesion after Microkeratome during early Healing Phasis

The Use of Citation Indexes and Impact Factor

Article was published in

Czech and Slovak Ophthalmology

1999 Issue 6