Multiple pterygium syndrome: a case complicated by malignant hyperthermia.
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.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D003914:Dextrocardia / Q000235:genetics; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008305:Malignant Hyperthermia / Q000150:complications*; D011247:Pregnancy; D011625:Pterygium / Q000150:complications / Q000235:genetics*; D011707:Pyloric Stenosis / Q000151:congenital / Q000235:genetics; D013577:Syndrome