Orhan Diclehan, Balci Sevim, Deren Ozgür, Utine Eda Gülen, Başaran Ahmet, Kale Gülsev
Division of Pediatric Pathology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2008 Jul-Aug;50(4):395-9.
Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported. A lethal form of Larsen syndrome (Larsen-like syndrome) has been described as a combination of the Larsen phenotype and pulmonary hypoplasia. In this report, we present a 24-week-old female fetus with a possible prenatal diagnosis of thanatophoric dysplasia in whom postmortem examination revealed lethal type Larsen-like syndrome associated with bifid tongue, severe micrognathia and non-immune hydrops fetalis. These findings have not been reported previously in the lethal type Larsen syndrome.
拉森综合征的特征是多处关节脱位，伴有典型的面部外观，且常伴有其他异常。已报道有显性和隐性两种遗传模式。一种致死型拉森综合征（类拉森综合征）被描述为拉森表型与肺发育不全的组合。在本报告中，我们介绍了一名24周龄的女性胎儿，产前可能诊断为致死性骨发育不全，尸检显示为致死型类拉森综合征，伴有双叉舌、严重小颌畸形和胎儿非免疫性水肿。这些发现以前在致死型拉森综合征中尚未见报道。
