Perrault syndrome with Marfanoid habitus in two siblings.
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.


METHODS
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.


CONCLUSIONS
The report of the siblings adds to the expanding spectrum of findings in Perrault syndrome.
Jacob
Jubbin J
JJ
Department of Endocrinology, Christian Medical College and Hospital, Vellore, India. jjacob@cmcvellore.ac.in
Paul
Thomas V
TV
Mathews
Suma S
SS
Thomas
Nihal
N
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D054119:Arachnodactyly; D005260:Female; D005808:Genes, Recessive; D023961:Gonadal Dysgenesis, 46,XX; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008382:Marfan Syndrome; D035781:Siblings; D013577:Syndrome