Balkan Journal of Medical Genetics

OTOPALATODIGITAL SYNDROME TYPE I: NOVEL CHARACTERISTICS AND PRENATAL MANIFESTATIONS IN TWO SIBLINGS
Joksic I1,*, Cuturilo G2,3, Jurisic A1,2, Djuricic S4,5, Peterlin B6, Mijovic M2, Karadzov Orlic N1,2, Egic A1,2, Milovanovic Z1,2
*Corresponding Author: Ivana Joksic, M.D., Ph.D., Gynecology and Obstetrics Clinic “Narodni Front”, Kraljice Natalije 62, 11000 Belgrade, Serbia. Tel: +381-64-128-7643. Fax: +381-11-334-9651. E-mail: ivanajoksic@yahoo.com
page: 83

INTRODUCTION

Otopalatodigital spectrum disorder (OPDSD) is a rare group of recognizable X-linked phenotypes caused by mutations in the filamin A (FLNA) gene [1]. It comprises four entities with overlapping clinical characteristics [otopalatodigital syndrome type I (OPD type I), OMIM 311300, otopalatodigital syndrome type II (OPD type II), OMIM 304120; frontomethaphyseal dysplasia (FMD), OMIM 302620 and Melnick-Needles syndrome (MNS), OMIM 309350] [1,2]. The hallmark of these disorders are skeletal dysplasia of variable severity affecting both axial and appendicular skeleton accompanied with different extra skeletal anomalies [2]. The FLNA gene encodes cytoskeletal protein filamin A, that binds actin through its N-terminal domain and other protein partners through the C-terminal domain [3]. It is expressed ubiquitously in cells and is required for membrane stability and linkage of signal transduction to the modulation of actin cytoskeleton [3]. Diagnosis of OPDSD is usually made postnatally, based on clinical characteristic and radiographic findings. Due to rather unspecific presentation in fetal period, diagnosis establishment based on ultrasonography abnormalities in the fetus is quite difficult, particularly in the mildest form OPD type I. So far, there are no published cases of prenatal diagnosis (PND) of OPD type I. We present prenatal ultrasonography and postmortem findings in two consecutive pregnancies of a young, non consanguineous couple that led us to the diagnosis of OPD type I.

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