No abstract available.
Beckwith-Wiedemann Syndrome*

No abstract available.
Beckwith-Wiedemann Syndrome*

No abstract available.
Beckwith-Wiedemann Syndrome*

No abstract available.
Beckwith-Wiedemann Syndrome*

Beckwith-Wiedemann Syndrome ; Female ; Humans ; Infant, Newborn

OBJECTIVE: To explore the genetic basis for a couple with recurrent conceptions of fetus with abnormal longbones, and another couple with a history of omphalocele. METHODS: Genomic DNA was extracted from the peripheral blood samples from both couples. All exons and flanking regions were analyzed with next generation sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: Couple one was found to be heterozygous for, a c.997+1G>T splice-site variant and a missence c.871G>A(p.Glu291Lys) variant of the ALPL gene. Both variants were predicted to be pathogenic and may result in reduced function or loss of alkaline phosphatase. For couple two, the wife was found to harbor a novel c.637_652 delins CCC variant of the CDKN1C gene. This deletion-insertion variant resulted in frame-shift and loss of function (p.Ala213Profs*55) of the CDKN1C protein. Maternally inherited CDKN1C LOF variant has been found to underlie Beckwith-Wiedemann syndrome (BWS), which may manifest as omphalocele. CONCLUSION Dispite the lack the direct proof from the lost fetuses, the variants of ALPL and CDKN1C genes can explain the recurrence of fetal malformations for both couples.
Beckwith-Wiedemann Syndrome ; Fetus ; Humans ; Mutation

Beckwith-Wiedemann sydrome is a multisystemic pattern of congenital anomalies with overgrowth. This syndrome is first described independently by Beckwith in 1963 and by Wiedemann in 1964. There is wide spectrum of clinical manifestations, including prenatal or postnatal overgrowth, neonatal hypoglycemia, macroglossia, visceromegaly, omphalocele, hemihypertrophy and a predisposition for embryonal tumors, most frequently Wilms' tumor. We experienced a case of Beckwith-Wiedemann syndrome who developed left adrenal cortical neoplasm of indeterminate malignant potential.
Beckwith-Wiedemann Syndrome ; Hernia, Umbilical ; Hypoglycemia ; Macroglossia ; Wilms Tumor

Beckwith-Wiedemann Syndrome ; diagnosis ; drug therapy ; Humans ; Infant ; Male

The Beckwith-Wiedemann syndrome, which included congenital anomalies such as macroglossia, exomphalos, postnatal somatic gigantism, have a substantially increased risk for the development of tumor. We report a case of testicular yolk sac tumor associated with Beckwith-Wiedemann syndrome, a previously unreported association. Pathologic examination showed Schiller-Duval body with evidence of testicular yolk sac tumor. This finding appears to represent a previously unreported association between Beckwith-Wiedemann syndrome and testicular yolk sac tumor.
Beckwith-Wiedemann Syndrome* ; Endodermal Sinus Tumor* ; Gigantism ; Hernia, Umbilical ; Macroglossia ; Testis ; Yolk Sac*

Airway obstruction in pediatric patients always poses a challenge for anesthesiologists. Beckwith-Wiedemann syndrome causes various abnormalities such as macroglossia and omphalocele. Patients with these abnormalities often need corrective surgeries. Management of difficult airway caused by conditions such as macroglossia in patients with this syndrome could be challenging. We encountered a case of difficult airway in an infant with Beckwith-Wiedemann syndrome. It was predicted that macroglossia might cause difficult ventilation, intubation, and extubation. Preoperative assessment and preparations for difficult airway should be considered.
Airway Management* ; Airway Obstruction ; Anesthesia, General ; Beckwith-Wiedemann Syndrome* ; Hernia, Umbilical ; Humans ; Infant ; Intubation ; Macroglossia ; Ventilation