β Scribed by Nishimura, Gen; Ikegawa, Shiro; Saga, Takeshi; Nagai, Toshiro; Aya, Misaki; Kawano, Toshio
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We report on two unrelated children, a girl and a boy, with regressive metaphyseal dysplasia. Both children had bow legs and a transient growth decline in early childhood. Metaphyseal modifications of the long bones in the children were most conspicuous at an early age and then subsided by age 2 to 3 years. The father of the boy may have had the same disorder, because he was shorter than his sibs and showed mild modifications of the vertebral end plates with mild narrowing of the interpediculate distance of the lumbar spine. The evolution of the metaphyseal dysplasia in the children closely resembled that of metaphyseal anadysplasia (MAD), which is X-linked recessive in inheritance. By contrast, the occurrence of an isolated, affected girl and possible father-to-son transmission reported here were consistent with autosomal dominant transmission, suggesting heterogeneity of MAD. Molecular studies of the type X collagen gene in the boy did not demonstrate any disease-causing mutation.
π SIMILAR VOLUMES
Fig. 1. Pedigrees of two families of patients with INVM, showing recurrence of INVM in brother and sister in one family (A), and parental consanguinity in the other (B).
## Robledo et al. [1995] reported on a Sardinian family with male relatives affected with X-linked ichthyosis with normal STS levels and a normal molecular pattern. The described findings suggested ''the possibility that additional loci of mutational events may be involved in the X-linked ichthyos
Book Three in the bestselling Starfarers series, reissued to coincide with the debut of Nautilus, also in mass market paperback. Though civilized worlds have shunned them both, humankind and the reclusive, alien squidmouth hope to find friendship in each other. Library : Science Fiction Format
While a student at Harvard in the early years of this century, T. S. Eliot immersed himself in the verse of Dante, Donne, and the nineteenth-century French poet Jules Laforgue. His study of the relation of thought and feeling in these poets later led Eliot, as a poet and critic in London, to formula
> Forensic investigator Theresa MacLean takes on the worst kind of murder case--one without clues--in this second novel in a hot new series from Lisa Black Eight months ago, forensic investigator Theresa MacLean lost her fiancΓ in a bank robbery gone wrong, and she's had trouble concentrating on he