摘要
BACKGROUND Roberts syndrome(RS)is a rare autosomal recessive cohesinopathy caused by biallelic mutations in ESCO2,essential for sister chromatid cohesion and genomic stability.Clinically,RS manifests as severe pre-and postnatal growth restriction,tetraphocomelia,craniofacial anomalies,and variable visceral organ malformations.Prenatal suspicion is often raised by ultrasonographic evidence of limb reduction and fetal hypotrophy.However,diagnosis remains elusive without molecular confirmation.This case underscores the diagnostic and prognostic value of next-generation sequencing in suspected RS,particularly within consanguineous populations where autosomal recessive conditions are more prevalent.CASE SUMMARY A four-month-old male infant,born to consanguineous parents,was referred for evaluation of multiple congenital anomalies.Prenatal ultrasonography demonstrated significant intrauterine growth restriction,bilateral upper limb absence of radius and ulna at 22 weeks,and unilateral renal pelvis dilation at 38 weeks.Postnatal findings included bilateral phocomelia,thumb aplasia,and flexion contractures at the elbows and knees.Physical examination revealed features consistent with cohesinopathy.Whole exome sequencing identified a homozygous pathogenic variant in ESCO2,confirming RS.Multisystemic involvement warranted early multidisciplinary coordination and genetic counseling for recurrence risk.CONCLUSION This case supports redefining isolated limb anomalies as early indicators warranting targeted prenatal genetic screening for cohesinopathies like RS.
