Congenital Bowing of Long Bones: Prenatal Ultrasound Findings and Diagnostic Dilemmas

Abstract

Objective: Bowing of the long bones can be easily detected on antenatal ultrasound screening, but it is a nonspecific sign that can be associated with a variety of conditions, each denoting a different prognosis. Among these conditions, three well-differentiated bone dysplasias share bowed long bones as a main clinical manifestation. Campomelic dysplasia and Stüve-Wiedemann syndrome are characterized by a poor prognosis. Conversely, the overall prognosis of children affected with kyphomelic dysplasia is good, the intelligence and motor development are normal and the radiological abnormalities tend to improve and regress with age. Case Report: We report a case of prenatal detection of short and bowed femora at the 22nd week of gestation. Careful US examination as well as in utero X-ray of the skeleton allowed the exclusion of campomelic dysplasia. In the absence of an unambiguous diagnosis, the pregnancy was continued. At birth, the child presented with clinical and radiological features consistent with a diagnosis of kyphomelic dysplasia. Conclusion: This case illustrates the difficulties in making an accurate diagnosis and consequently giving a prognosis when isolated femoral bowing is found on fetal ultrasound examination.

p.His165Pro: A novel SOX9 missense mutation of campomelic dysplasia

“…Cumming syndrome (MIM 211890) includes prenatal‐onset campomelia dysplasia, cystic hygroma, small chest with cardiac defect, cleft palate and multicystic kidneys . Stuve‐Wiedman syndrome (MIM 601559), also known as neonatal Schawrtz‐Jampel type 2 (caused by mutation in the leukemia inhibitory factor receptor gene on chromosome 5p13), kyphomelic dysplasia (MIM 211350) and Weisman‐Netter Stuhl syndrome (MIM 112350) have overlapping prenatal ultrasound findings of congenital bowing of the long bones and pose a critical prenatal diagnostic dilemma …”

Campomelic Dysplasia: Echographic Suspicion in the First Trimester of Pregnancy and Final Diagnosis of Two Cases

“…The closest nosological presentations are Antley-Bixler syndrome, which can show a sex reversal, and kyphomelic dysplasia [6,18] . The Stüve-Wiedemann and Cumming syndrome which belong to the same group in The International Nosology and Classification of Constitutional Disorder of Bones also belong to the differential diagnosis ( table 2 ).…”

Antenatal Presentation of Isolated Femoral Hypoplasia Discovered at 18 Weeks of Gestation

“…PFFD have usually no other associated anomalies, but, when present, the most common are essentially skeletal and hypoplasia and aplasia of the other long bones [7][8][9]. The majority of cases of PFFD are sporadic and have been previously reported in pediatric literature.…”