Isolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia.

Abstract

The isolated form of femoral bowing is an important differential diagnosis of campomelia. Therefore, knowledge of isolated anomalies is fundamental for prenatal diagnosis, especially for the differential diagnosis from severe syndromes. Four cases are presented to discuss the differential diagnosis of femoral bowing including a review of the literature. We report four newborn babies with unilateral bowing and shortening of the femur. Three had no further anomaly; one child had additional abnormalities due to coumarin embryopathy. The radiological findings were shortened femora with bowing and varus deformity and cortical thickening on the concave side. All other parts showed normal bone structure. The aetiology of femoral bowing is unknown. Early damage of the cartilaginous model followed by remodelling with thickening on the concave side of the bone similar to the healing of malaligned fractures is suspected. The isolated form of femoral bowing without any other anomalies has to be differentiated from complex and more often severe congenital syndromes such as campomelia. Postpartum radiological examination should be reduced to a single exposure of the affected limb and follow-up should be done by clinical examination.

• Authors: Friederike Körber, Eckard Schönau, A Eldad Horwitz, Gabriele Benz-Bohm
• Journal: Pediatric radiology (Pediatr Radiol) Vol. 35 Issue 6 Pg. 641-6 (Jun 2005) ISSN: 0301-0449 [Print] Germany
• PMID: 15635470 (Publication Type: Case Reports, Journal Article)

Topics

• Diagnosis, Differential
• Female
• Femur (abnormalities)
• Humans
• Infant, Newborn
• Limb Deformities, Congenital (diagnostic imaging)
• Male
• Prenatal Diagnosis
• Radiography
• Ultrasonography