A case with microphthalmia and multiple congenital anomalies/mikroftalmi ve coklu konjenital anomalili bir olgu

Citation metadata

Authors: Ayca Sari, Erdem Dinc and Olgu Hallioglu Kilinc
Date: November-December 2013
From: Turkish Journal of Ophthalmology(Vol. 43, Issue 6)
Publisher: Galenos Yayinevi Tic. Ltd.
Document Type: Case study; Report
Length: 1,483 words

Main content

Abstract :

We present a 7-month-old girl with bilateral microphthalmia, sclerocornea, iris and chorioretinal coloboma, blepharophimosis and dacryostenosis. Microphthalmia is one of the most common features in many syndromes as Micro syndrome, oculodentodigital dysplasia, oculofaciocardiodental syndrome, and Lenz microphthalmia syndrome. Our patient's clinical features also involved microcephaly, cleft palate, developmental delay, digital and urogenital anomalies, cardiac septal defects and hearing loss, which diagnosis is mostly consistent with the Lenz microphthalmia syndrome. Lenz microphthalmia syndrome is a very rare conditions and their expressions are more often in countries with high rates of consanguineous marriages. Hence, recognizing such rare syndromes in patients with multiple congenital anomalies is essential. (Turk J Ophthalmol 2013; 43: 468-70) Key Words: Microphthalmia, congenital anomalies, Lenz Microphthalmia syndrome Ozet Bu olgu sunumunda iki tarafli mikroftalmi, sklerokornea, iris ve koryoretinal kolobom, blefarofimozis ve dakriyostenozu olan 7 aylik bir kiz cocugu degerlendirilmektedir. Mikroftalmi basta Micro sendromu, okulodentodigital displazi, okulofasiyokardiyodental sendrom ve Lenz mikroftalmi sendromlari olmak uzere pek cok sendroma eslik edebilmektedir. Bizim olgumuzda ayrica mikrosefali, yarik damak, gelisme geriligi, parmak ve urogenital anomaliler, kardiyak septal defekt ve isitme kaybi da mevcuttu ve bu bulgular olgumuzda tani acisindan Lenz mikroftalmi sendromunu dusundurmekteydi. Lenz mikroftalmi sendromu oldukca nadir gorulmekle birlikte ozellikle akraba evliliklerinin sik oldugu ulkelerde daha fazla karsimiza cikabilmektedir. Bu nedenle coklu konjenital anomalisi olan olgularda bu nadir sendromun mutlaka akla getirilmesi gerekmektedir. (Turk J Ophthalmol 2013; 43: 468-70) Anahtar Kelimeler: Mikroftalmi, konjenital anomaliler, Lenz Mikroftalmi sendromu

Source Citation

Source Citation
Sari, Ayca, et al. "A case with microphthalmia and multiple congenital anomalies/mikroftalmi ve coklu konjenital anomalili bir olgu." Turkish Journal of Ophthalmology, vol. 43, no. 6, 2013, p. 468+. Accessed 30 Oct. 2020.
  

Gale Document Number: GALE|A414693398