Separating monosomy-21 from the "arthrogryposis basket"
Houston, C.S.; Chudley, A.E.
Journal of the Canadian Association of Radiologists 32(4): 220-223
1981
ISSN/ISBN: 0008-2902 PMID: 7328100 Document Number: 173080
An infant with monosomy-21 lived for 20 minutes. The clinical and radiologic findings suggested arthrogryposis, Infants with monosomy-21 have severe intrauterine growth retardation, failure to thrive, arthrogryposis-like findings with restriction of joint mobility, often with joint dislocations, and flexion deformities and malposition of the fingers and toes. Features which help to distinguish it from arthrogryposis include a rather specific craniofacial configuration with a broad base of the nose, an antimongoloid slant of the palpebral fissures, a down-turning mouth shaped like that of a carp, micrognathia, and large low-set ears. The condition is not associated with advanced maternal age. Radiologic findings to date have been quite variable.