OBJECTIVE: Wiedemann-Beckwith syndrome is a multisystemic pattern of congenital anomalies with overgrowth. The most characteristic clinical features are macroglossia, high birth weight, omphalocele, visceromegaly and hypoglycemia. PATIENTS AND METHODS: We show the clinical and epidemiological characteristics of the 18 cases with Wiedemann-Beckwith syndrome identified in the consecutive series of 25,967 malformed liveborn infants detected among 1,431,368 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1997. RESULTS AND CONCLUSIONS: The minimal estimated frequency of Wiedemann-Beckwith syndrome in Spain is 0.13 per 10,000 liveborn infants. These infants have a high birth weight for their gestational age and are born of shorter pregnancies (prematurity 33.3%). The clinical manifestations of our cases are concordant with the variable expression of the syndrome; the most frequent features were macroglossia (100%), omphalocele or umbilical hernia (77.8%) and high birth weight (64.7%). Other findings were polyhydramnios and placentomegaly. All of the cases were sporadic.
OBJECTIVE:Wiedemann-Beckwith syndrome is a multisystemic pattern of congenital anomalies with overgrowth. The most characteristic clinical features are macroglossia, high birth weight, omphalocele, visceromegaly and hypoglycemia. PATIENTS AND METHODS: We show the clinical and epidemiological characteristics of the 18 cases with Wiedemann-Beckwith syndrome identified in the consecutive series of 25,967 malformed liveborn infants detected among 1,431,368 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1997. RESULTS AND CONCLUSIONS: The minimal estimated frequency of Wiedemann-Beckwith syndrome in Spain is 0.13 per 10,000 liveborn infants. These infants have a high birth weight for their gestational age and are born of shorter pregnancies (prematurity 33.3%). The clinical manifestations of our cases are concordant with the variable expression of the syndrome; the most frequent features were macroglossia (100%), omphalocele or umbilical hernia (77.8%) and high birth weight (64.7%). Other findings were polyhydramnios and placentomegaly. All of the cases were sporadic.