CLINICAL OVERLAP OF BECKWITH-WIEDEMANN, PERLMAN AND SIMPSON-GOLABI-BEHMEL SYNDROMES - A DIAGNOSTIC PITFALL

We report on a child who died in the neonatal period. Major external a nomalies included foetal overgrowth, macroglossia, and ambiguous genit alia (micropenis and perineoscrotal hypospadias with cryptorchidism). Necropsy showed a large right diaphragmatic hernia, visceromegaly, mul ticystic kidney dysplasia, Langerhans islet hyperplasia, nephroblastom atosis, multiple adrenal adenomas, and dysplastic testicles. The child illustrates the difficulties of the differential diagnosis of overgro wth syndromes in the neonatal period, and the phenotypic overlap of Be ckwith-Wiedemann, Denys-Drash, Simpson-Golabi-Behmel, Perlman and poss ibly Meacham-Winn syndromes. Simpson-Golabi-Behmel syndrome was felt t o be the most likely diagnosis. If this opinion is correct, genital am biguity, hydramnios and nephroblastomatosis should be added to the cli nical spectrum of Simpson-Golabi-Behmel syndrome. Differential diagnos is between the above-mentioned syndromes is of major importance for ac curate genetic counseling, considering the differences in recurrence r isk. The present case underlines the need for long-term survey of pati ents suspected of having Simpson-Golabi-Behmel syndrome, who could be at risk for embryonic tumours.