Pierpont syndrome (OMIM #602342) is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. A specific mutation in TBL1XR1 [c.1337A>G; p.(Tyr446Cys)] has been described recently in six unrelated patients with Pierpont syndrome. We report on a male child with developmental delay, distinctive facial dysmorphic features, dystrophy, and abnormal fat distribution in the feet, in whom we identified the identical TBL1XR1 mutation. This patient also had additional clinical features including microphthalmia, pendular nystagmus, cryptorchidism, dermal sinus, and peripheral joint laxity, which had not been reported previously in association with Pierpont syndrome. This patient corroborates the assumption that Pierpont syndrome is exclusively caused by the specific TBL1XR1 missense mutation p.(Tyr446Cys) and the additional features broaden the phenotypic spectrum of this rare disorder.

中文翻译：

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皮尔庞特综合征：一名新患者的报告。

Pierpont综合征（OMIM＃602342）是一种罕见的疾病，其特征在于发育延迟，特征性面部表情，听力下降和远端四肢脂肪分布异常。TBL1XR1中的特定突变[c.1337A> G; p。（Tyr446Cys）]最近在6例不相关的Pierpont综合征患者中得到描述。我们报告了一个发育迟缓，独特的面部畸形特征，营养不良和脚部脂肪分布异常的男孩，在其中我们确定了相同的TBL1XR1突变。该患者还具有其他临床特征，包括小眼症，摆动性眼球震颤，隐睾，皮肤窦和周围关节松弛，以前没有与皮尔庞特综合征相关的报道。