Purpose or Case Report: Congenital anomalies causing lower extremity shortening can result from dysgenesis or agenesis of the bones of the thigh, leg or foot; they are generally a very uncommon occurrence, with an incidence on the order of one case per 1,000,000 to one case per 100,000 births. These conditions result in varying degrees of morbidity, ranging from gait dysfunction to complete lack of the ability to ambulate. The accurate characterization of such an anomaly may be challenging prenatally, but can have significant impact on prognosis and treatment planning.
We present a collection of cases depicting the spectrum of prenatally diagnosed anomalies of limb development, including proximal focal femoral deficiency, multiple cases of varying degrees of fibular and tibial hemimelia, amniotic band syndrome, benign uterine packing, neurofibromatosis, clubfoot anomaly and rocker bottom foot, all of which were evaluated on prenatal ultrasound and/or fetal MRI.
Accurate prenatal diagnosis is extremely important for prognosis, treatment planning and risk-stratification for associated congenital anomalies. The purpose of this poster will be to highlight the imaging features by both fetal MRI and prenatal US, discuss potential diagnostic pitfalls and review the clinical implications of this interesting spectrum of congenital disorders. We will describe a methodical approach to assessment of these patients. Our recommendations include: prenatal US to include a complete set of bilateral long bone and foot length measurements; lateral and footprint views of the fetal foot; views of both tibiae and fibulae bilaterally; views of the spine and upper extremities, a thorough search for other abnormalities; fetal MRI for complex cases or when US findings are limited; and a complete family and maternal history, including notation of family stature.
Examples of the classic appearance of these conditions will be presented. Several missed diagnoses and the lessons learned will also be discussed. Counseling points addressed by the orthopedic surgeon will be included. Outcome management will be reviewed.
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