Oro-facio-digital syndrome type 1: case report
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Case Reports
P: 120-121
September 2011

Oro-facio-digital syndrome type 1: case report

Med J Bakirkoy 2011;7(3):120-121
1. Nenehatun Kadın Doğum Hastanesi Genetik Ünitesi, Erzurum
2. Nenehatun Kadın Doğum Hastanesi Yenidoğan Ünitesi, Erzurum
3. Erzurum Bölge Eğitim Hastanesi Aile Hekimliği Kliniği, Erzurum
No information available.
No information available
Received Date: 04.06.2010
Accepted Date: 15.07.2010
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ABSTRACT

Oro-facio-digital syndrome (OFDS), a group of congenital anomalies, is characterized by malformations of the oral cavity (cleft palate, high arched palate, tongue lobulation, hamartoma on the tongue), face (frontal bossing, facial asymmetry, hypertelorism), and digits (syndactyly, brachydactyly, polydactyly). OFDS 1 is an X-linked dominant condition. OFDS 1 is a rare syndrome, occurring in approximately 1/250,000 live births. Being a rare entity, this paper presents a case of OFDS 1.

Keywords:
Oro-facio-digital syndrome 1, oral hamartoma, polydactyly