Ullrich syndrome: a hypotonic disorder of early infancy, difficult to define as an entity
Aparicio Meix, J.M.; Pascual-Castroviejo, I.
Anales Espanoles de Pediatria 13(11): 979-984
1980
ISSN/ISBN: 0302-4342 PMID: 7212471 Document Number: 166369
Three cases, a female and two males, with the diagnosis of Ullrich syndrome are presented. Major clinical findings included congenital hypotonia, joint contractures, high-arched palate, prominent calcaneus, scoliosis, hyperhidrosis and normal intelligence. The course was not progressive or even underwent slow improvement. Our cases followed the autosomal recessive pattern of inheritance. Muscle enzymes were all within the normal ranges. EMG showed findings that were consistent with a chronic myogenic pattern. Muscle biopsy revealed variation in the size of muscle fiber diameters and large increase of the connective tissue without evidence of dystrophic changes. We consider Ullrich syndrome as a nonspecific muscle disturbance of unexplained nature, related, but not identical, to both congenital muscular dystrophy and myogenic type of arthrogryposis multiplex congenita.