Hypovitaminosis-A in a Family with Tylosis and Clinodactyly

Serum-Vitamin-A Levels in Two Families with Tylosis

“…beta-carotene, and beta-lipoprotein levels were within normal limits. This observation is in contrast to the report by Anderson and Klintworth (1961). in which they found hypovitaminosis-A in a family with tylosis and clinodactyly.…”

“…There is no sex preference; both males and females transmitted the disorder; each affected individual had an affected parent; no set of unaffected parents had an affected child; and approximately one-half of the offspring, one of whose parents was affected, were themselves affected. This is in conformity with the previous description of the genetics of tylosis palmaris et plantaris (Cockayne, 1933;Anderson and Klintworth, 1961 Discussion The levels of beta-carotene in each individual were within normal limits as determined in this laboratory and also as judged from the values obtained from a large number of normal individuals studied by Leitner, Moore, and Sharman (Moore, 1957, p. 361). Normal serum levels of betacarotene imply an unimpaired absorption of lipids from the gastrointestinal tract.…”

“…vitamin A per 100 ml., with a mode between 140 and 160 1.3U. The data obtained from the two families studied by us do not reveal a correlation between tylosis and hypovitaminosis-A as reported by Anderson and Klintworth (1961). Although some of the values of vitamin-A levels in Family II were below the mode, they are within the normal range as defined by Moore (1957).…”

“…In Anderson and Klintworth's (1961) series there were three instances in which no vitamin A was detected in the serum. The average of their normal value was given as 70 I.U.…”

Pattern of correlations in the skeleton of the growing hand

“…The downward bias in the conventional estimates seems to have been less serious for the proximal and medial phalanges than for the terminal phalanges (where a given measurement error is largest in relation to the true variance), or for the metacarpals (where measurement errors may have been absolutely greater because of the more complicated shape of the silhouette). Among many heritable anomalies of the hand skeleton possibly the commonest is the flexion deformity of the fifth digit which has variously been termed camptodactyly, streblomicrodactyly (Byrne, 1959) and clinodactyly (Anderson & Klintworth, 1961 ;Hersh, De Marinis & Stecher, 1953). A regular feature of this deformity is that bone @ I is shorter than 'normal'.…”