"A Case of Atypical Phenotype of Bilateral Polysyndactyly in Joubert Syndrome"

Yoko Kishi

doi:10.26717/bjstr.2020.26.004387

Abstract

Joubert syndrome (JS), first described by Marie Joubert in 1968, is a congenital anomaly characterized by episodic hyperpnea, abnormal eye movement, ataxia and intellectual disability.

Highlights

This case report details Joubert syndrome (JS), first described by Marie Joubert in 1968, is a congenital anomaly characterized by episodic hyperpnea, abnormal eye movement, ataxia, intellectual disability and typical “molar tooth sign” in Magnetic Resonance Imaging (MRI) findings
Joubert syndrome (JS), first described by Marie Joubert in 1968, is a congenital anomaly characterized by episodic hyperpnea, abnormal eye movement, ataxia and intellectual disability
Our case was diagnosed as Joubert syndrome with orofaciaodigital defects

Summary

Introduction

Joubert syndrome (JS), first described by Marie Joubert in 1968, is a congenital anomaly characterized by episodic hyperpnea, abnormal eye movement, ataxia and intellectual disability. A y-shaped metacarpal bone between the middle and ring finger is seen on x-ray. Our patient had bilateral polydactyly of the ring finger from middle phalanx to distal phalanx in the right hand and from the metacarpal bone to the distal phalanx on the left and polysyndactyly from the proximal phalanx to the distal phalanx of the right great toe. Magnetic Resonance Imaging (MRI) findings shows typical “molar tooth sign” (Figure 4). He shows hypotonia and developmental delays, but He hasn’t retinal renal, hepatic, orofacial defect (Figure 5). Our comprehends literature search of Pubmed on congenital hand anomalies in Joubert syndrome revealed that from 1968 to 2017

Results

Discussion

Conclusion