TWO INFANTS WITH BECKWITH-WIEDEMANN SYNDROME
Ratbi I1,2,*, Elalaoui SC1, Sefiani A1,2
*Corresponding Author: Professor? Dr.? Ilham Ratbi, Department of Medical Genetics. National Institute of Health, Rabat, Morocco; 27 Avenue Ibn Battouta, B.P. 769, Rabat, Morocco; Tel.: +212(0)613-58-67-97; Fax: +212(0)537-77-20-67; E-mail: ilhamratbi@yahoo.fr
page: 51

CASE REPORTS

Patient 1. A 2-day-old male, firstborn infant of 25-year-old non consanguineous parents, was referred for medical genetics consultation because of multiple malformations. There was no family history of congenital anomalies. The mother had given birth prematurely by cesarean section at 34 weeks gestation because of hydramnios. The infant was intubated and ventilated for respiratory distress. He was macrosomic (>97th percentile) for length and weight, had facial dysmorphism of one infraorbital crease, mid face hypoplasia, macroglossia, low-set ears, distended abdomen and cryptorchidism (Figure 1).

An abdomino-renal ultrasonography revealed nephromegaly with normal structure. All laboratory examinations were within normal limits, including blood glucose levels. The parents were healthy and appeared normal. We concluded from the association of hydramnios, prematurity, characteristic facies, macroglossia, overgrowth, and nephromegaly that the infant had BWS. Due to respiratory distress, the infant died when he was 7 days old.

Patient 2. A newborn male was hospitalized for multiple malformation syndrome and macroglossia responsible of respiratory distress. He was the firstborn of a healthy consanguineous couple (second degree), the mother being 20 years old and the father 27 years old at the time of birth. There was no relevant family history. The infant had been delivered by cesarean section at term because of suspected hydramnios. He had the same dysmorphic features as patient 1. All laboratory examinations were within normal limits, including blood glucose levels. The chromosomal investigation revealed a normal male karyotype, 46 XY. We concluded that he had BWS because of the hydramnios, overgrowth (>97th percentile for length and weight), macroglossia and bilateral ureterohydronephrosis.





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