Maria Bandeira Duarte, Marta Valerio, Ana Filipa Vilarinho
Macrodactyly requires early recognition and long-term multidisciplinary management involving pediatricians, orthopedists, geneticists, physiatrists, and surgeons. Surgical intervention is typically inevitable, and maintaining realistic expectations is crucial. Despite the challenges, the overall prognosis is favorable, with no adverse effects on systemic growth or neurodevelopment.
INTRODUCTION: Macrodactyly is a rare congenital malformation characterized by the overgrowth of all mesenchymal elements in one or more digits of the hands or feet. Although diagnosis typically occurs at birth, prenatal detection via ultrasound has been reported. The condition imposes a significant psychological burden on children and their families. Pediatricians are often the first clinicians to inform and counsel anxious parents; accurate recognition of this malformation and clear communication regarding the multidisciplinary approach, clinical evolution, and overall prognosis are therefore essential.
CASE PRESENTATION: A full-term female neonate presented at birth with an isolated enlargement of the second and third digits of the left foot. There were no other abnormalities. A family history of a structural hand anomaly in the maternal grandmother was noted. After 4.5 years of follow-up, the asymmetry progressively accentuated, consistent with the progressive type of macrodactyly.
CONCLUSIONS: Macrodactyly requires early recognition and long-term multidisciplinary management involving pediatricians, orthopedists, geneticists, physiatrists, and surgeons. Surgical intervention is typically inevitable, and maintaining realistic expectations is crucial. Despite the challenges, the overall prognosis is favorable, with no adverse effects on systemic growth or neurodevelopment.