Cormode E J, Dawson M, Lowry R B
Am J Med Genet. 1986 Jun;24(2):289-94. doi: 10.1002/ajmg.1320240209.
In 1972 Keutel et al described a brother and sister with brachytelephalangism, hearing loss, peripheral pulmonary stenosis and abnormal cartilage calcification. Since then, three additional cases have been reported. We report a sixth case and discuss the clinical findings and cause.