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
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Abstract
Otopalatodigital spectrum disorder (OPDSD) is rare
group of X-linked disorders caused by mutations in the filamin
A (FLNA) gene. It is characterized by skeletal dysplasia
of variable severity and different extra skeletal manifestations.
Its presentation in the fetal period is quite unspecific,
so diagnosis is usually made after birth. We present prenatal
ultrasonography and postmortem findings that led us to a
diagnosis of the mildest form of OPDSD (OPD type I)
in two consecutive pregnancies. This is the first report on
prenatal diagnosis (PND) of OPD type I. Affected fetuses
showed facial dysmorphy (hypertelorism, micrognathia,
cleft palate) and digital anomalies, features typical of OPD
type I. In addition, microphtalmia and early neonatal death
due to severe respiratory distress syndrome are described
as a novel characteristics of the disorder. Clinical exome sequencing
revealed a hemizygous missense pathogenic variant
in the FLNA gene (NM_ 001110556.1: c.620C>T). We
suggest that the presence of hypertelorism, micrognathia,
digital anomalies on prenatal ultrasound examination should
alert suspicion to OPDSD. Detailed clinical examination of
mother and other female relatives is of great importance in
establishing definitive diagnosis of OPD type I.
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