Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating
conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants …

Somatic variants have been well described in tumorigenesis; however, they are only
recently appreciated in other human disorders, such as mosaic overgrowth syndromes …

Macrodactyly is a rare condition in which fingers, hands or limb growth is unregulated,
resulting in overgrowth of tissues in the affected extremities. It is critical to properly assess …

Purpose To characterize the presentation, treatment, and early outcomes of children with
isolated congenital macrodactyly of the hand. Methods We performed a retrospective chart …

Macrodactyly, enlargement of one or multiple digits, was described in the literature nearly
200 years ago. This is an exceptionally uncommon diagnosis that has led to a paucity of …

Macrodactyly is a congenital malformation characterized by enlargement of bone and soft
tissues in limbs, typically with excessive accumulation of adipose tissues. Although gain-of …

Purpose Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in
macrodactyly involves all tissue types and presents alone or as part of a congenital …

Background PIK3CA (activating mutations of the p110α subunit of phosphatidylinositol 3-
kinases)-related overgrowth spectrums (PROS) include a variety of clinical presentations …

Background: Patient-and parent-reported outcomes are increasingly considered as
measures of treatment effectiveness for congenital conditions. The authors' specific aim was …

Macrodactyly of the foot is a rare but disabling condition. We present the results of surgery
on 18 feet of 16 patients, who underwent ray amputation and were followed-up for more than …