.png){kind=icon}
.png){kind=icon}
Return
Severe congenital four-limb reduction defect with bilateral humeroradial synostosis and Pierre Robin sequence in a low-resource setting: a case report and differential-diagnostic approach from Burkina Faso
.png){kind=icon}
OA
AI
J
J
A
S
A
S
N
D
DOI：10.1186/s12884-026-09812-9.png)
.png){kind=icon}
Original request for help.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
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.
Keywords:
Limb reduction defect
Four-limb reduction defect
Humeroradial synostosis
Femoral-facial syndrome
WNT7A
Differential diagnosis
Pierre Robin sequence
Congenital anomalies
Prenatal diagnosis
Skeletal dysplasia
Burkina Faso
Sub-Saharan Africa
Low-resource settings
Journal
IF:
2.7
Papers:
2.2K
Citations:
2.3W
Organization
Cited Papers