Trisomy Disorders

Posts Tagged ‘karyotype

Clinical ocular manifestation of Patau’s syndrom (trisomy 13)–own observations

2011

Kanigowska KGrałek MSeroczyńska M.

Source

Z Kliniki Okulistyki Instytutu “Pomnik – Centrum Zdrowia Dziecka” w Warszawie. kkan@wp.pl

Abstract

PURPOSE:

The purpose of the article is to present the clinical abnormalities of Patau’s syndrome (trisomy13).

MATERIAL AND METHODS:

Examination was performed on 18 months old girl with trisomy13 in which we noted characteristic malformations in ocular system. The patient underwent cataract surgery and intraocular lens implantation in right eye. In this case the diagnosis of trisomy 13 was confirmed by karyotype.

RESULTS:

Inferonasal iris colobomas, anterior-posterior form of persistent hyperplastic primary vitreus (PHPV), persistent tunica vasculosa lentis (PTVL), coloboma of the lens and cataract in right eye were found. Cataract surgery was performed with good results. Systemic abnormalities included heart defect, brain defect, cleft palate, small head, dysplastic ears, mental retardation, epilepsy and increased muscle tone.

CONCLUSIONS:

The child with the presence of inferonosal iris colobomas and cataract and with other systemic and dysmorfic findings, should have kariotype examination to look for trisomy 13.

PubMed

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