Abstract
Al-Awadi/Raas–Rothschild/Schinzel phocomelia syndrome (AARRS) and Fuhrmann syndrome are two conditions of a phenotypic spectrum caused by mutations in the same gene. Individuals with AARRS exhibit gross lower-limb and severe upper-limb anomalies. These include ectrodactyly with nail dysplasia, oligodactyly, contractures, hypoplasia or aplasia of the elbow joint, reduction of the radius/ulna to a single bone, and monodactyly, as well as dysplastic nails in the upper limb. Also seen are dysplasia of the pelvis and absence of the distal lower limb with only a residual femur left.
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