A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor

We present a 3-year-old female with 22q13 deletion syndrome, 46, XX, del (22) (q13.1)dn.ish del (22) (q13.31) (ARSA-,22qSUBTEL-). The terminal deletion was diagnosed antenatally through amniocentesis after sonographic detection of unilateral multicystic kidney and unilateral cleft lip (Figs 1 and 2), both left-sided. The pregnancy was complicated by polyhydramnios, yet continued to 40 weeks gestation without other complication. The sonographic findings were confirmed after delivery. At 22 months of age, the patient was diagnosed with Wilms tumor of the kidney not affected with cysts. Neither orofacial clefting nor Wilms tumor has been reported earlier in a patient with 22q13 deletion syndrome (also known as PhelanMcDermid syndrome). © 2011 Wolters Kluwer Health. Lippincott Williams & Wilkins.