article · BMC Pregnancy and Childbirth
A clinical report from Burkina Faso describes a rare case of an infant born with severe reduction defects across all four limbs alongside Pierre Robin sequence. Antenatal detection occurred during a routine ultrasound at 28 weeks of pregnancy. Postnatal clinical examination and radiographic imaging confirmed bilateral humeroradial synostosis, complete absence of both femurs and fibulas, and craniofacial anomalies including micro-retrognathia and glossoptosis without a cleft palate. Because molecular genetic testing facilities were unavailable, clinicians relied on detailed physical phenotyping and structured differential analysis to evaluate overlapping monogenic syndromes. Despite multidisciplinary supportive care, the infant experienced persistent feeding complications, poor weight gain, and died at two months of age. The findings demonstrate that detecting severe skeletal anomalies is feasible through second-trimester ultrasound in resource-limited environments, while emphasising the need for local genetic infrastructure, neonatal care pathways, and surveillance systems.
Severe congenital anomalies present profound diagnostic challenges, especially where molecular testing is inaccessible. Demonstrating that standard ultrasound imaging can detect such conditions early allows medical teams to prepare appropriate delivery and neonatal management. The case highlights critical gaps in healthcare infrastructure across sub-Saharan Africa, showing where investment in diagnostic technology, anomaly surveillance, and specialised infant care could improve outcomes for families facing rare malformations.
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Severe limb reduction defects are rare congenital malformations that remain poorly documented in sub-Saharan Africa. When all four limbs are severely affected, the resulting phenotype is aetiologically heterogeneous and overlaps several monogenic syndromes — including the femoral-facial (femoral hypoplasia–unusual facies) spectrum, the femur–fibula–ulna complex, WNT7A-related limb disorders, and the cohesinopathies (Roberts/SC phocomelia). The co-occurrence of a severe four-limb reduction defect with Pierre Robin sequence has rarely been described and, to our knowledge, never previously reported from Burkina Faso. We report a 29-year-old paucigravida (G3P2) with no history of teratogenic exposure or consanguinity, whose first morphological ultrasound, performed late at 28 weeks, revealed bilateral femoral agenesis, bilateral fibular agenesis and severe bilateral lower-limb reduction defects. A 2,750 g male newborn was delivered vaginally at 37 weeks following prolonged premature rupture of membranes. Clinical examination confirmed severe reduction defects of all four limbs with preserved digital rays, and micro-retrognathia with glossoptosis consistent with Pierre Robin sequence (no cleft palate). Radiographs demonstrated bilateral humeroradial synostosis with humeri of normal length, complete femoral and fibular agenesis, and tibias articulating directly with the pelvis. Transfontanellar ultrasound identified an isolated cavum vergae cyst; cardiac and abdominal imaging was normal. Genetic testing was unavailable, so the diagnosis remains clinical and descriptive; the differential is discussed in detail. Despite multidisciplinary supportive management, the infant died suddenly in the community at two months of age, against a background of refractory feeding difficulties and inadequate weight gain. This exceptionally rare case demonstrates that antenatal detection of severe skeletal dysplasias is feasible through routine second-trimester ultrasound even in resource-limited settings. It also illustrates that, when molecular testing is unavailable, rigorous phenotyping and a structured differential diagnosis are essential to avoid premature diagnostic labelling. The case underscores the urgent need for genetic investigation capacity, multidisciplinary neonatal care pathways, and congenital anomaly surveillance systems in sub-Saharan Africa.
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DOI: 10.1186/s12884-026-09812-9
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