A Case with Microphthalmia and Multiple Congenital Anomalies

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

Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene

- Ailesel hipertrofik kardiyomiyopati (HKM) değişken klinik özellikler gösterebilen, otozomal dominant olarak ge- çen eksik penetranslı ve genetik olarak heterojen bir has- talıktır. Kalıtsal kardiyomiyopatilerin genetiği ile ilgili gün- cel gelişmeler, b#NAME