Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort

Abstract excerpt

OBJECTIVE: Prenatal detection and genetic diagnosis of congenital upper limb anomalies is particularly challenging due to both anatomical and technological factors. Hereby, we present a cross-sectional description of clinical and genetic findings in a 188-patient cohort. METHOD: In this retrospective study, we present 188 cases with prenatally or postnatally detected upper limb anomalies, either isolated,...

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• Congenital limb and hand anomalies
• Neurogenetic and Muscular Disorders Research
• Prenatal Screening and Diagnostics