ABSTRACT
PURPOSE: The purpose of this study was to evaluate treatment and surgical outcomes of patients of Beckwith-Wiedemann Syndrome (BWS) treated at a tertiary children's hospital. METHODS: A retrospective review of infants evaluated at Texas Children's Hospital for BWS from August 2000 to December 2016 was performed. Data collected included demographic information, clinical presentation, genetic evaluation, fetal imaging, operative treatment, and outcomes. RESULTS: Forty-seven children with a diagnosis of BWS were identified. Sixty-four percent (n=30) had a genetic mutation in an imprinting domain of chromosome 11p15. Thirty-two patients (68%) underwent at least one operation related to BWS with a median of 2 [range: 0-8] surgical procedures per patient. Sixteen underwent omphalocele repair, 12 had partial glossectomies-, 7 underwent surgeries related to hemihypertrophy, and 6 had resection of an embryonal tumor (two adrenal cortical adenoma, one Wilms' tumor, two hepatoblastoma). Overall, survival was 100% with feeding difficulty (47%) being the most frequent complication. CONCLUSION: A substantial number of patients with Beckwith-Wiedemann Syndrome will require surgery. However, overall outcomes are similar between those that require surgery and those that do not. LEVEL OF EVIDENCE: Level III.
Subject(s)
Beckwith-Wiedemann Syndrome/surgery , Diagnostic Imaging/methods , Postoperative Complications/epidemiology , Surgical Procedures, Operative/methods , Beckwith-Wiedemann Syndrome/diagnosis , Beckwith-Wiedemann Syndrome/mortality , Female , Gestational Age , Humans , Incidence , Infant , Infant, Newborn , Male , Retrospective Studies , Survival Rate/trends , Texas/epidemiology , Treatment OutcomeABSTRACT
Two cases of Beckwith-Wiedemann syndrome who developed malignant tumor and eventually died are reported. The patients followed two different screening programs for early detection of cancer, and the most appropriate schedule of follow-up in carriers of this syndrome is discussed.
Subject(s)
Beckwith-Wiedemann Syndrome/physiopathology , Beckwith-Wiedemann Syndrome/mortality , Child, Preschool , Fatal Outcome , Female , Follow-Up Studies , Humans , Infant , MaleABSTRACT
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.
Subject(s)
Beckwith-Wiedemann Syndrome/physiopathology , Beckwith-Wiedemann Syndrome/genetics , Beckwith-Wiedemann Syndrome/mortality , Developmental Disabilities/genetics , Female , Genomic Imprinting , Humans , Infant Mortality , Infant, Newborn , Longitudinal Studies , MaleABSTRACT
The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-face hypoplasia. Twenty-two cases of WBS were examined clinically and cytogenetically, and compared to 226 previously reported cases. Aspects of the clinical evaluations are discussed. All individuals examined were chromosomally normal with no evidence of 11p abnormality as has been reported recently. The relevance of a possible relationship between clinical findings, chromosome abnormalities, and genes present on 11p is discussed. Transmission of this condition is most consistent with autosomal dominant inheritance with incomplete penetrance.
