Premium
Clinical overlap of Beckwith‐Wiedemann, Perlman and Simpson‐Golabi‐Behmel syndromes: a diagnostic pitfall
Author(s) -
Verloes Alan,
Massart Brigitte,
Dehalleux Isabelle,
Langhendries JeanPaul,
Koulischer Lucien
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04307.x
Subject(s) - medicine , gigantism , differential diagnosis , beckwith–wiedemann syndrome , congenital adrenal hyperplasia , macroglossia , pediatrics , pathology , dermatology , tongue , biology , genetics , gene expression , dna methylation , gene
We report on a child who died in the neonatal period. Major external anomalies included foetal overgrowth, macroglossia, and ambiguous genitalia (micropenis and perineoscrotal hypospadias with cryptorchidism). Necropsy showed a large right diaphragmatic hernia, visceromegaly, multicystic kidney dysplasia, Langerhans islet hyperplasia, nephroblastomatosis, multiple adrenal adenomas, and dysplastic testicles. The child illustrates the difficulties of the differential diagnosis of overgrowth syndromes in the neonatal period, and the phenotypic overlap of Beckwith‐Wiedemann, Denys‐Drash, Simpson‐Golabi‐Behmel, Perlman and possibly Meacham‐Winn syndromes. Simpson‐Golabi‐Behmel syndrome was felt to be the most likely diagnosis. If this opinion is correct, genital ambiguity, hydramnios and nephroblastomatosis should be added to the clinical spectrum of Simpson‐Golabi‐Behmel syndrome. Differential diagnosis between the above‐mentioned syndromes is of major importance for accurate genetic counseling, considering the differences in recurrence risk. The present case underlines the need for longterm survey of patients suspected of having Simpson‐Golabi‐Behmel syndrome, who could be at risk for embryonic tumours.