Table 2

Neurofibromatosis type 1: percentage of diagnostic features present in different populations examined to date

	Danish Borberg⁵ 1940s (n=159)^2-150	North American Crowe et al⁶ 1950s (n=178)^2-151	Swedish Samuelsson⁷ 1970s (n=72)^2-152	Welsh Huson et al8 9 1980s (n=155)	North American Riccardi10 1980s (n=953)	Australian North111990s (n=200)	French Wolkenstein et al12 1990s (n=152)	Dutch Cnossen et al13 1990s (n=150)^2-153	World wide NNFFDB14 1990s (n=1728)^2-154	British McGaughran et al15 1990s (n=523)^2-160	Finnish This paper 1990s (n=164)
Method of ascertainment	Hospital records	Hospital records	Population based	Population based	Special NF clinic	Special NF clinic	Special NF clinic	Special NF clinic	Special NF clinic	Special NF clinic	Population based
Café au lait spots	95	85	79	84	100	96	97	97	89	87	96
Freckles	64	NA	60	70	64	84	82	85	84	84	87
Neurofibromas	84	83	100	78	67	49	91	40	54	59	69
Plexiform neurofibroma	16	19	21	32	40	25	34	27	23	15	20
Lisch nodules	NA	NA	NA	87	84	66	66	52	59	63	70
Optic glioma	3^2-164	1^2-164	NA	2^2-164	14	9	1^2-164	11	4^2-164	5	20^2-161
Pseudarthrosis	1	3	1	2	3	3	4	2	2	2	3
Familial	70	64	69	64	51	43	43	49	NA	71	56

NA = not analysed.
↵2-150 Originally 161 cases, 2 NF2 cases excluded here.
↵2-151 Originally 223 cases, only those 187 NF cases seen by the authors calculated, 5 NF2 and 4 segmental NF cases excluded here.
↵2-152 Originally 74 adult cases, 2 segmental NF cases excluded here.
↵2-153 All patients under 18 years of age.
↵2-154 The National Neurofibromatosis Foundation International Database includes some of the same Australian and current patients.
↵2-160 The number of patients analysed varies from 249 to 523.
↵2-164 Only symptomatic ones.
↵2-161 n=121.