{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T15:38:10Z","timestamp":1760888290446,"version":"build-2065373602"},"reference-count":23,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,8]]},"abstract":"<jats:p>We retrospectively compared patients with NF1 with and without optic pathway gliomas (OPG) to determine the incidence and range of orbital developmental abnormalities and compared the incidence of OPG in African-Americans and whites. From cranial MR scans, we manually measured 14 orbital dimensions, compared them to published standards of Waitzman et al, calculated orbital volumes, and determined the presence or absence of volumetric symmetry (delta v) (delta v &lt; or = 3 cm3 was considered to be symmetrical). We compared the results of orbital configurational assessment between patients with (group I) and those without OPG (group II). The study population comprised 58 patients, 24 boys, 18 African-American, and one Hispanic. Median age at imaging was 7 years (range 0.5-25.5 years). Fifty-eight percent had conformational abnormalities, 16 of whom had more than one abnormality (28%), the most frequent being increased intertemporal distance (n=10), increased lateral orbital distance (n=8), increased medial wall length (n=6), and decreased medial wall length (n=6). The increased intertemporal and lateral orbital distances may contribute to the appearance of hypertelorism. Only two patients had sphenoid wing hypoplasia. We found a high incidence of orbital dimensional abnormalities in the total population but more often saw multiple abnormalities in patients with OPG. However, no pattern of configurational abnormality emerged. OPG is less frequent in African-Americans. Orbital volumetric disparity seems to be independent of the presence of OPG.<\/jats:p>","DOI":"10.1136\/jmg.35.8.628","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"628-631","source":"Crossref","is-referenced-by-count":12,"title":["Bony orbital morphology in neurofibromatosis type 1 (NF1)."],"prefix":"10.1136","volume":"35","author":[{"given":"S C","family":"Kaste","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E K","family":"Pivnick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,8,1]]},"reference":[{"key":"ref_1","first-page":"1355","article-title":"Von Recklinghausen neurofibromatosis: a clinical and population study in South East Wales","volume":"11","author":"Huson, S.M.; Harper, P.S.; Compston, D.A.S.","year":"1988","unstructured":"Huson SM, Harper PS, Compston DAS. 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