β Scribed by Kelly, Thaddeus E.
No coin nor oath required. For personal study only.
The comments of Frost are quite appropriate relative to our case report. The in utero fractures were apparently of different ages and were healing in a reasonable fashion. The fact that no fractures occurred during delivery or the few months that the infant survived speaks again of an intrinsic defect in the bone. The presence of in utero fractures argues for an early in utero onset of fetal hypotonia secondary to the spinal muscular atrophy. Although one might well imagine fractures occurring in utero or postnatally in an infant with spinal muscular atrophy secondary to a SMN T mutation, our studies suggested that the case we re-ported and that of Borochowitz et al. [1991] represent a rare and severe form of spinal muscular atrophy in which the primary defect is unknown.
π SIMILAR VOLUMES
prompted us to re-examine the issue of mosaicism in several cases of atypical Prader-Willi syndrome reported in 1996 [Mowery
We read with interest, and unease, the letter by Dr. Schrander-Stumpel [1998] on the importance of using terminology that is least offensive to the patients and families involved, and took notice that for this reason Dr. Schrander-Stumpel and others in Europe and the USA do not use the term Kabuki "