PEDIATRICS Vol. 81 No. 2 February 1988, pp. 287-290
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Heredofamilial Syndrome of Mesodermal Hamartomas, Macrocephaly, and Pseudopapilledema

Michaela Dvir MD1, Siegfried Beer MD1, and Mordechay Aladjem MD1

1 From the Department of Pediatrics B and the Pediatric Pulmonary Allergic Service, Assaf Harofeh Medical Center and the Sackler School of Medicine, Tel-Aviv, Israel

A 4frac12-year-old boy with macrocephaly, pseudopapilledema, lipoangiomatosis, macropenia, and spotted pigmentations of the glans is reported. Lipoid masses were found in the subcutaneous tissue, tonsils, and probably the left lung. Some of these findings are consistent with features already reported by Riley and Smith, later by Bannayan, and recently by Ruvalcaba et al. We propose to unify the features of this syndrome and name it macrocephaly, mamartomas, and papilledema syndrome. The inheritance in our described case seems to be autosomal dominant.

Key Words: Riley-Smith syndrome • Bannayan syndrome • Ruvalcaba-Myhre-Smith syndrome • macrocephaly • hamartomas • papilledema

Submitted on January 9, 1986
Accepted on February 24, 1987




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