Two patients with cleft palate, clubfoot, congenital scoliosis, and arthrogryposis multiplex congenita showed increased numbers of lipid droplets in biopsied muscle fibers. There was little abnormality in the mitochondrial morphology of the muscle and the results of blood chemistry including carnitine concentrations. Accumulation of large lipid droplets, increased amount of glycogen and a decreased number of mitochondria were observed in chondrocytes from the biopsied iliac crest cartilage of these patients. It was suggested that the present cases might belong to a previously unknown clinico-pathological entity of myopathies.
Two cases, a father and daughter, with all the principal signs of tricho‐rhino‐phalangeal syndrome Type II are described, although nine previously reported cases were all sporadic. It is suggested that these two patients have a genetic disorder with an autosomal dominant mode of inheritance. It may be reasonable to assume that a patient with relatively mild mental retardation, such as the father in the present report, could marry and have offspring. Generalized aminoaciduria was found in the affected daughter.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.