Robinson L K, O'Brien N C, Puckett M C, Cox M A
Clin Genet. 1987 Jul;32(1):5-9. doi: 10.1111/j.1399-0004.1987.tb03315.x.
The autosomal recessive multiple pterygium syndromes are a heterogeneous group of disorders in which multiple joint contractures are associated with cutaneous webbing. Recently, we evaluated a 33 week gestation male in whom multiple pterygia were one feature of a broader pattern of malformation. Clinical management was adversely affected by malignant hyperthermia. In this report we present the clinical, radiographic and pathologic data of this patient and those of an affected stillborn female sibling. We believe that these represent the features of a newly recognized disorder.
常染色体隐性多发性翼状胬肉综合征是一组异质性疾病,其中多个关节挛缩与皮肤蹼状皱襞相关。最近,我们评估了一名孕33周的男性,其多发性翼状胬肉是更广泛畸形模式的一个特征。恶性高热对临床管理产生了不利影响。在本报告中,我们展示了该患者以及一名受累死产女同胞的临床、影像学和病理数据。我们认为这些代表了一种新认识疾病的特征。