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 placentas which were almost twice normal placental weight. The large fetal size and polyhydramnios often resulted in early delivery with occasional perinatal mortality (three cases). Increased placental size, with associated polyhydramnios resulting in excessive umbilical cord length, may be useful in suspecting WBS prior to delivery, thereby facilitating 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 gestational age, length, and weight. This trend continued through early childhood and then excessive size became less dramatic with increasing age. We detected no cytogenetic variations in nine patients who had studies 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 long-term ultrasound monitoring was not burdensome to the families. In comparison, mental and social development to unaffected siblings and cousins appeared normal.
Weng
E Y
EY
Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, Cedars-Sinai Medical Center, UCLA School of Medicine, USA.
Moeschler
J B
JB
Graham
J M
JM
D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics / Q000401:mortality / Q000503:physiopathology*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D007226:Infant Mortality; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008297:Male