Perrault Syndrome with Marfanoid Habitus in Two Siblings

Abstract 

Background

Familial pure gonadal dysgenesis with 46 XX karyotype and sensorineural deafness constitutes a rare autosomal recessive syndrome described initially by Perrault in 1951. The spectrum of the disease remains undetermined. Families with additional newer findings are regularly reported.

Case

We report two siblings with gonadal dysgenesis, progressive sensorineural deafness, Marfanoid body proportions and skeletal features, and a normal female karyotype. The diagnosis of Perrault syndrome was made. Abnormal body proportions including a longer arm span, shorter trunk, high arched palate, long slender fingers and positive thumb and wrist sign were observed. The siblings did not have any cardiac or ocular features of Marfan's syndrome.

Conclusion

The report of the siblings adds to the expanding spectrum of findings in Perrault syndrome.

Key Words: Perrault syndrome, Primary amenorrhea, Sensorineural deafness, Familial gonadal dysgenesis