Syndromes with focal femoral deficiency: strengths and weaknesses of prenatal sonography.

OBJECTIVE: To further characterize the prenatal diagnosis of proximal focal femoral deficiency and to contrast this entity with a variety of other "syndromes" in which the femur may be deficient. METHODS: We report 2 cases of proximal focal femoral deficiency and a case of femoral-facial syndrome. RESULTS: A series of 3 women whose fetuses had deficiency of 1 or both femurs were carefully analyzed for severity and for similarities and differences with other syndromes in which the femur may be deficient, as well as syndromes showing global skeletal abnormalities. CONCLUSIONS: Prenatal sonography is a valuable tool both for detecting cases of proximal focal femoral deficiency, separating them from syndromes showing global skeletal abnormalities, and for stratifying them according to severity.

Morgagni hernia: a rare form of congenital diaphragmatic hernia.

A congenital diaphragmatic hernia (CDH) occurs in approximately 1 per 2000 pregnancies. Most CDHs that are recognized in utero are of the Bochdalek type, resulting from a posterior defect in the diaphragm. Morgagni hernias result from an anterior defect and are the least common type of CDH (5%). They are rarely seen in utero. Furthermore, when they are seen in utero, they may be mischaracterized. We present a case of an unusual type of Morgagni hernia diagnosed in utero. The type of Morgagni hernia reported here is particularly uncommon. Two cases with similar findings have been reported previously. The shared findings between these cases indicate that, although rare, this may be a recognizable type of CDH and one that is distinguishable from the Bochdalek type.