Normal lipid composition of fibroblasts from a case of type II achondrogenesis

Abstract

Fibroblasts from a case of achondrogenesis type II and fibroblasts from a normal control donor were subcultivated in vitro in parallel. The lipid study on these cells showed similar total lipid content, free cholesterol level, phospholipid distribution and fatty acid patterns, while neutral glycerides were slightly more elevated in the control fibroblasts. The histological finding of Laxova et al. (1973) could not be confirmed.

Achondrogenesis: A review with special consideration of achondrogenesis type II (langer‐saldino)

“…Some cases listed were so poorly documented that they could not be adequately differentiated from other similar lethal chondrodystrophies [Yang et al, 1976b; Sillence et al, 19781. In addition to the cases listed by Wiedemann et a1 [1974], there are probably 30 other cases of achondrogenesis in the literature [Goard and Kozlowski, 1973; Cremin and Beighton, 1974; Curran et al, 1974; Edwards et al, 1974; Nardi et al, 1974; Sabry, 1974; Urso and Urso, 1974;Yang et al, 1974;Ho and Tan, 1976;Lauder et al, 1976;Maroteaux et al, 1976; Ornoy et al, 1976; Yang et al, 1976a,b; Golbus et al, 1977;Kozlowski et al, 1977; Mulkherji and Moss, 1977; Cremin and Beighton, 1978;MacHenry and Nevin, 1978;Le Lous, 1980; Macpherson and Wood, 19801. To justify the diagnosis of achondrogenesis type I1 in our two cases with somewhat milder disturbances in ossification, attempts were made to gather information on survival time, ethnic background, sex ratio, maternal age, gravidityparity, gestational period, and polyhydramnios from reported cases (Appendix I, 11) along with other anthropometric, clinical, radiographic, and histologic data.…”