Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema.
A 4 1/2-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, hamartomas, and papilledema syndrome. The inheritance in our described case seems to be autosomal dominant.
Dvir
M
M
Department of Pediatrics B, Assaf Harofeh Medical Center, Zerifin, Israel.
Beer
S
S
Aladjem
M
M
D002675:Child, Preschool; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006984:Hypertrophy; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D014066:Palatine Tonsil / Q000473:pathology; D010211:Papilledema / Q000150:complications*; D012886:Skull / Q000002:abnormalities*; D013737:Testis / Q000473:pathology