ORPHA: 2215;
Froster-Iskenius et al. (1988) described 2 unrelated families, each with 2 affected sibs with an apparently 'new' type of arthrogryposis. The first family had affected brother and sister, the second family 2 affected brothers. Cleft palate was present in both members of the first family. Axillary webbing was present in 3 of the 4. The brother and sister developed malignant hyperthermia in response to anesthesia; anesthesia was avoided in the second family. Two natal teeth were present in 1 of the patients; the second patient could not open her mouth fully. Froster-Iskenius et al. (1988) believed that this disorder is distinct from the King syndrome (145600) as well as from the multiple pterygium syndrome. Robinson et al. (1987) described a lethal form of multiple pterygium syndrome associated with malignant hyperthermia. Two sibs, a male born live at 33 weeks' gestation and a stillborn female delivered at 25 weeks' gestation, were reported.
Froster-Iskenius, U. G., Waterson, J. R., Hall, J. G. A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. J. Med. Genet. 25: 104-112, 1988. [PubMed: 3346884] [Full Text: https://doi.org/10.1136/jmg.25.2.104]
Robinson, L. K., O'Brien, N. C., Puckett, M. C., Cox, M. A. Multiple pterygium syndrome: a case complicated by malignant hyperthermia. Clin. Genet. 32: 5-9, 1987. [PubMed: 3621655] [Full Text: https://doi.org/10.1111/j.1399-0004.1987.tb03315.x]