Frank-Ter Haar Syndrome, Report of a Case with a Novel Mutation from Iran

Hadipour Z,Bokhoven H van,Hennekam R,Shafeghati Y,Hadipour F

doi:10.23937/2378-3656/1410262

Abstract

Frank-Ter Haar Syndrome, Report of a Case with a Novel Mutation from Iran

Highlights

Frank, et al [1] described an 18-month-old Bedouin girl, born to consanguineous parents, with megalocorneae, multiple skeletal anomalies, and developmental delay, and suggested that this combination of anomalies was a hitherto unreported entity. ter Haar, et al.[2] reported on three Dutch patients from one family with craniofacial and skeletal characteristics resembling Melnick-Needles syndrome (MNS) but with a fatal course and autosomal recessive inheritance
Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a developmental delay and multiple congenital anomalies
To recognize the first description by Frank, et al of their patient as a separate entity it was proposed to rename the disorder as Frank-ter Haar syndrome

Summary

Introduction

Et al [1] described an 18-month-old Bedouin girl, born to consanguineous parents, with megalocorneae, multiple skeletal anomalies, and developmental delay, and suggested that this combination of anomalies was a hitherto unreported entity. ter Haar, et al. In 1995, another affected boy, with a similar phenotype, was described from the same but extended family as studied [2,3] These authors suggested that this was an entity distinct from MNS and proposed the eponym ter Haar syndrome. We describe an Iranian 6-year-old boy with this syndrome which was confirmed by a homozygous pathogenic mutation in the SH3PXD2B gene This patient was a 5 years 8 months old Iranian boy, the firstborn child of a healthy parents and the only child of a complex consanguineous married couple. He was referred because of Multiple Congenital Anomalies and Dysmorphy. His suggestion after a long time correspondence was Frank-ter Haar syndrome, and referred me to Prof. He suggested that one of the families was from Pakistan and told that he is not sure from which region in Iran your family is coming from and are they relatives? this family was not relative of Pakistani family

Result

Discussion