Jacob Jubbin J, Paul Thomas V, Mathews Suma S, Thomas Nihal
Department of Endocrinology, Christian Medical College and Hospital, Vellore, India.
J Pediatr Adolesc Gynecol. 2007 Oct;20(5):305-8. doi: 10.1016/j.jpag.2006.11.007.
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.
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.
The report of the siblings adds to the expanding spectrum of findings in Perrault syndrome.
具有46 XX核型和感音神经性耳聋的家族性单纯性腺发育不全是一种罕见的常染色体隐性综合征，最初由佩罗于1951年描述。该疾病的范围仍未确定。经常有报道发现新的病例。
我们报告了两名患有性腺发育不全、进行性感音神经性耳聋、类马凡氏体型比例和骨骼特征以及正常女性核型的兄弟姐妹。诊断为佩罗综合征。观察到身体比例异常，包括臂展较长、躯干较短、高拱腭、手指细长以及拇指和手腕征阳性。这两名兄弟姐妹没有马凡综合征的任何心脏或眼部特征。
这两名兄弟姐妹的报告增加了佩罗综合征不断扩大的病例范围。
