Separating monosomy-21 from the "arthrogryposis basket".
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.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D001176:Arthrogryposis / Q000000981:diagnostic imaging*; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging*; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D003937:Diagnosis, Differential; D005532:Foot Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000151:congenital* / Q000000981:diagnostic imaging; D011859:Radiography; D013131:Spine / Q000002:abnormalities; D013577:Syndrome