LONGITUDINAL OBSERVATIONS ON 15 CHILDREN WITH WIEDEMANN-BECKWITH SYNDROME

We conducted a follow-up study on 15 patients with Wiedemann-Beckwith syndrome (WBS) to further clarify major and minor diagnostic clinical characteristics and longterm expectations for growth and development. We found patients with WBS tended to have polyhydramnios with large pl acentas which were almost twice normal placental weight. The large fet al size and polyhydramnios often resulted in early delivery with occas ional perinatal mortality (three cases). Increased placental size, wit h associated polyhydramnios resulting in excessive umbilical cord leng th, may be useful in suspecting WBS prior to delivery, thereby facilit ating perinatal management. The presence of abdominal wall defects and /or macroglossia may help to confirm the diagnosis. At birth, patients were almost 2 standard deviations above the expected mean for gestati onal age, length, and weight. This trend continued through early child hood and then excessive size became less dramatic with increasing age. We detected no cytogenetic variations in nine patients who had studie s done and, to date, no tumors have been detected other than a gastric teratoma that was evident in one infant at birth. Longitudinally, the children have not had an unusual incidence of medical problems, and l ong-term ultrasound monitoring was not burdensome to the families. In comparison, mental and social development to unaffected siblings and c ousins appeared normal. (C) 1995 Wiley-Liss, Inc.