Macroglossia, abdominal wall defects, peculiar face, and hypoglycemia

G. Morcaldi, A. Di Stefano, D. Concolino, P. Strisciuglio, E. Bonioli

Research output: Contribution to journalArticlepeer-review

Abstract

We present an infant born to healthy unrelated parents; the child presented with coarse face, flat forehead, prominent metopic ridge and eyebrows, depressed nasal bridge, cleft palate, midfacial hypoplasia, telecanthus, long flat philtrum, macroglossia, prognatism, linear indentation of the ear lobe, ulnar deviation of the fingers, umbilical hernia, bilateral inguinal hernia, severe hypospadias with short chorda penis, cryptorchidism, rocker bottom feet, hypotonic and hypotrophic muscles. An Ebstein's anomaly was found, with dilatation of the right sections of the heart, double superior vena cava with abnormal left superior vena cava outlet in the right coronary sinus, hypoglycaemia with relative hyperinsulinemia, mildly hypotrophic kidneys with calyceal dilatation and IV degree ureteral reflux, L2 and L3 hemivertebrae and absence of XII left rib. The molecular basis of this syndrome is heterogeneous. Our case is due to duplication of the11p15 by balanced paternally derived translocation, which is a rare aetiology of Beckwith-Wiedemann's Syndrome. Differential diagnosis must be established with other overgrowth syndromes. The overall incidence of tumours in BWS is 7.5% and tumour surveillance is recommended for all children with a diagnosis or suspected diagnosis of BWS.

Original languageEnglish
Pages (from-to)3-7
Number of pages5
JournalItalian Journal of Pediatrics
Volume32
Issue number1
Publication statusPublished - Feb 2006

Keywords

  • Beckwith Wiedemann's Syndrome
  • BWS
  • Imprinting defects

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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