Ann Pediatr Res | Volume 2, Issue 2 | Case Report | Open Access

Oral-Facial-Digital Syndrome Type 1 with Fibrocystic Disease of the Liver and Pancreas

Nagehan Aslan^1*, Tugba Koca² and Mustafa Akcam²

¹Department of Pediatrics, Cukurova University, Turkey
²Department of Pediatrics, Suleyman Demirel University, Turkey

^*Correspondance to: Nagehan Aslan 

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Abstract

Oral-facial-digital syndrome type 1 is a developmental disorder associated with malformation of the oral cavity, face and digits. This syndrome is an X-linked dominant condition with embryonic male lethality. The case is here reported of a 6-year old girl who presented with facial dysmorphology in addition to a cleft palate operation history and digital abnormalities. In addition, she had visceral involvement of the kidney, liver and pancreas. A new splice site mutation of OFD1 gene was detected. To the best of our knowledge, there has been no reported case of oral-facial-digital syndrome type 1 with liver and pancreatic involvement and with this mutation. The aim of this case report was to discourse this new clinical entity in the light of literature.

Keywords:

Liver cysts; Novel mutation; Oral facial digital syndrome; Pancreatic cysts; Polycystic kidney disease

Citation:

Aslan N, Koca T, Akcam M. OralFacial-Digital Syndrome Type 1 with Fibrocystic Disease of the Liver and Pancreas. Ann Pediatr Res. 2018; 2(2): 1012.