Genetic assessment showed 46,XX, del(4)32q [Figure 1]; a terminal deletion was confirmed by FISH analysis [Figure 2]. Both parents had a normal karyotype.
Exterior uterine contour appeared normal without evidence of serosal myomas. No gross peritoneal hyperpigmentation, adhesive disease, or puckering was present to suggest endometriosis. However, the surface of the broad ligament demonstrated multiple 1–2 mm vesicle-like punctations [Figure 3] in random distribution which, when biopsied, showed benign peritoneal calcification. Spheroid aggregations of fibroadipose tissue were noted between the round ligament and fallopian tube, especially prominent on the right [Figure 4]. Neither hysteroscopy nor chromopertubation were performed, but normal intrauterine anatomy was determined from pelvic MR.
Brain MR revealed no gross deviation in normal cortical or ventricular anatomy. However, an area of enhanced signal intensity (approx. 10 mm) was identified at the inferior margin of the right globus pallidus, consistent with old lacunar infarct with surrounding gliosis [Figure 5]. Absence of contrast enhancement at this site suggested a neoplastic process or vascular malformation was unlikely; the benign nature of this lesion was confirmed by head CT with contrast. X-ray of hands demonstrated a bilateral abnormality of the fifth distal phalanges, consistent with developmental dysmorphia or tuft avulsion [Figure 6].