Abstract
We present a case of prenatal diagnosis of a fetus with asymmetric overgrowth and multiple cystic lesions in which the differential diagnoses include Proteus syndrome (PS) and Klippel-Trenaunay-Weber syndrome (KTW). The patient is a 40 year old G3P1A1 presenting at 18 weeks gestation due to advanced maternal age. Ultrasound exam revealed edematous right fetal hip, leg, and foot with irregular contour; edema of the left hip through the chest; and an enlarged right kidney. Follow up ultrasound performed at 21 weeks confirmed these findings along with possible cysts in the right kidney. Amniocentesis results revealed a 46,XY karyotype with an AFAFP of 2.72 MoM and a negative acetylcholinesterase. The patient terminated the pregnancy at 22 weeks. At autopsy the fetus was found to have multicystic masses and enlargement of the right foot and left thorax. Polydactyly of the phalanges of the right foot as well as hemorrhagic vascular tumors were associated with the overgrowth of the right leg. The fetus appeared macrocephalic. No other internal or external hamartomata were identified. No skin lesions (nevi) were identified, although this is not unusual in a mid gestation fetus.
Asymmetric overgrowth and vascular tumors are features of both KTW and PS. This fetus had features consistent with both conditions. The lack of other types of tumors and cutaneous or connective tissue nevi in the fetus makes it difficult to support a diagnosis of PS. However, many of the characteristic features of PS, which may allow differentiation from KTW, are not always present at birth or in the prenatal period.
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Vincent, V., Seaver, L., Sanders, A. et al. Prenatal Diagnosis of Asymmetric Fetal Overgrowth: A Diagnostic Dilemma. Genet Med 1, 64 (1999). https://doi.org/10.1097/00125817-199901000-00093
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DOI: https://doi.org/10.1097/00125817-199901000-00093