Acheiropodia e frocondis

OBJECTIVE: To describe in detail a case of severe fetal skeletal dysplasia identified during pregnancy, highlighting the clinical features, imaging findings, and challenges of obstetric management. The study aims to contribute to medical knowledge on skeletal dysplasias, with a focus on prenatal detection, prognosis, and the therapeutic implications of these rare and complex conditions. CASE REPORT: This study presents the prenatal follow-up of a 35-year-old patient, G2P0A1, with no previous comorbidities but with a family history of upper limb hypoplasia on her partner’s side, underscoring the importance of genetic evaluation. At 20 weeks of gestation, an ultrasound examination revealed significant skeletal abnormalities characterized as skeletal dysplasia with phocomelia of all limbs. At 24 weeks, subsequent imaging confirmed the severity of the findings, with marked shortening of the femurs and humeri and the absence of legs, forearms, feet, and hands, consistent with a diagnosis of acheiropodia and severe skeletal dysplasia (referred to as frocondis). DISCUSSION: Fetal skeletal dysplasia comprises a heterogeneous group of disorders that result in abnormal bone formation, leading to deformities and fragility, with a high rate of perinatal morbidity and mortality. Accurate prenatal diagnosis, supported by detailed morphological ultrasonography and genetic studies, is essential for determining prognosis and planning appropriate management. CONCLUSION: This case reinforces the importance of close follow-up and a multidisciplinary approach in pregnancies with fetal malformations. Effective collaboration among obstetricians, neonatologists, and geneticists allows for timely management and precise genetic counseling for the couple. The complexity of this case highlights the ongoing need to improve diagnostic techniques and to provide compassionate support to families facing severe congenital conditions.