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ISSN 0185-3252 (Print)
Revista de la Asociación Médica del Centro Médico ABC

2019, Number 2

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An Med Asoc Med Hosp ABC 2019; 64 (2)

Beckwith-Wiedemann syndrome: differential diagnosis in macrosomic fetuses

Dickter SC, Flores VE, Landeta SAP, Ayala YR

Language: Spanish
References: 16
Page: 135-139
PDF size: 193.86 Kb.


ABSTRACT

Introduction: Beckwith-Wiedemann syndrome is a genetic syndrome characterized by an alteration in the regulation of somatic growth and predisposition to develop tumors of embryonic origin. Fetuses are large for gestational age, tend to go into preterm labor, have macrosomia and congenital malformations. Objective: Emphasize the importance of considering Beckwith-Wiedemann syndrome in patients with early detection of overgrowth and redirect their approach. We report a case of a patient whose fetus was diagnosed with Beckwith-Wiedemann, being the first case in our hospital. Clinical case: A 32-year-old female who in her second gestation, started with a preterm labor threat at 33 weeks of gestation, with a large product for gestational age, percentile greater than 90 since early stages of pregnancy, and multiple concomitant structural malformations such as visceromegaly corroborated by ultrasound. C-section was performed and a pre-term product of 35.2 weeks of gestational age, macrosomic, and a weight of 4,040 grams was obtained. Due to the structural alterations and macrosomia, Beckwith-Wiedemann Syndrome was suspected and later confirmed. Conclusions: Beckwith-Wiedemann syndrome is a genetic diagnosis that requires early detection to ensure a better prognosis for the newborn. Clinical characteristics and physical features are of great importance in order to consider this syndrome as part of the differential diagnosis in macrosomic fetuses.


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