EXTENDING THE OVERLAP OF 3 CONGENITAL OVERGROWTH SYNDROMES

We present the case of a male infant, born prematurely (at 33 weeks ge station) with macrosomia, disproportionate macrocephaly, facial dysmor phism, short penis and a small umbilical defect. He had a large ASD an d was ventilated from birth for respiratory distress syndrome. He died at 12 hours of age despite neonatal ITU care. Post-mortem examination showed highly lobulated kidneys with nodules of blastema and foci of hamartomatous change in the medulla. Prominence of pancreatic islet ce lls and expansion of hepatic portal tracts were also noted. His mother has minor cervical spine abnormalities. We discuss the differential d iagnosis and the difficulty in confidently assigning a diagnosis to th is patient, as considerable overlap is becoming evident between Simpso n-Golabi-Behmel syndrome and Perlman syndrome.