Arterial tortuosity syndrome (ATS; OMIM #208050) is a sporadic, autosomal, recessively inherited genetic disorder. ATS primarily causes the tortuosity and elongation of large and medium-sized arteries; however, other skeletal manifestations include dysmorphic features, such as hyperextensible skin, hypermobile joints, and congenital contractures. The present article reports the case of a female neonate, who, at birth, exhibited abnormal facial features, hypermobility of joints, and abnormal physical appearance.
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