title: Beckwith-Wiedemann Syndrome and Primary Lymphedema of the Lower Extremity.
abstract: Beckwith-Wiedemann syndrome is the most common genetic overgrowth syndrome. Patients with Beckwith-Wiedemann syndrome may have hemihypertrophy, but their lymphatic vasculature is intact. We present a child with Beckwith-Wiedemann syndrome and lower extremity enlargement thought to be due to hemihypertrophy that was instead diagnosed with primary lymphedema. There are many causes of leg overgrowth in the pediatric population and misdiagnosis is common. While extremity enlargement secondary to hemihypertrophy may occur in 15% of patients with Beckwith-Wiedemann syndrome, progression and pitting edema only occur in primary lymphedema. This report highlights the importance of ensuring an accurate diagnosis so that patients are managed appropriately.
authors: Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors: Usha E A
authors: UE
authors: Beijnen
authors: Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors: Reid A
authors: RA
authors: Maclellan
authors: Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors: Jeremy A
authors: JA
authors: Goss
authors: Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors: Javier A
authors: JA
authors: Couto
authors: Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors: Dennis J
authors: DJ
authors: Konczyk
authors: Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors: Arin K
authors: AK
authors: Greene
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D002648:Child; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D035002:Lower Extremity / Q000473:pathology; D008209:Lymphedema / Q000150:complications* / Q000000981:diagnostic imaging; D061305:Lymphoscintigraphy