Affiliation:
1. Department of Plastic and Oral Surgery, Lymphedema Program, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
Abstract
Primary lymphedema most commonly affects the lower extremities, is progressive, and is not curable. The condition is associated with mutations in approximately 30 genes. Patients usually present with edema during infancy or adolescence. Four of 364 (1%) patients with primary lymphedema in our database were diagnosed by prenatal imaging. Three children did not exhibit lymphedema after birth, 2 had a VEGFC mutation, and 2 exhibited normal lymphatic function by lymphoscintigraphy. Lymphedema identified prenatally is associated with a VEGFC mutation and can resolve postnatally.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Earth and Planetary Sciences,General Environmental Science