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The median maternal serum free beta human chorionic gonadotropin (hCG) multiple of the median (MOM) of 480 Down syndrome cases in the second trimester was 2.64, significantly greater than the reported median MOM of intact hCG (p < 0.0001). In 234 of these cases from retrospective and prospective studies, the effectiveness of maternal serum free beta hCG was(More)
In 1981, Niikawa et al. and Kuroki et al. independently described patients with a new syndrome consisting of mental retardation, postnatal growth deficiency and unusual facial features such as long palpebral fissures with eversion of the lateral one-third of the lower eyelids, arched and laterally sparse eyebrows and large prominent ears among other(More)
A family in which three male members had premature closure of the metopic suture with other suture involvement was studied. Each of the affected persons also had short stature and delayed development. The pattern of inheritance appeared to be X-linked recessive; however, the possibility of autosomal dominant inheritance with low expressivity in women could(More)
Chromosome analysis of bone marrow cells from a patient with acute monocytic leukemia, who had had a renal transplant followed by immunosuppressive treatment 45 months prior to the onset of leukemia, showed an unusual karyotype: 48,XX,+8,+8, t(1q12----pter::11q12----qter), t(4p12----qter::6p11----pter),t(7p22----qter::12q23 ----qter?),(More)
An unbalanced translocation of a portion of the long arm of chromosome 21 to the short arm of chromosome 4 resulted in a partial deletion of chromosome 21 (pter----q21.05) and in the loss of the telomere of 4p. The phenotype of the child included asymmetrical facies, microcephaly, short stature, hypotonia, and psychomotor retardation associated with(More)
Post-dural puncture headache (PDPH) is a common complication of lumbar puncture. As invasive treatments for PDPH have known complications, pharmacologic management may be preferable. The aim of this study was to evaluate and to compare the efficacy of intravenous theophylline treatment for PDPH, in comparison with a placebo. We found that intravenous(More)
In 1981 Delleman and Oorthuys' reported two children with congenital malformations consisting of orbital cysts, cerebral malformations, focal dermal defects, and skin appendages. They suggested the term 'oculocerebrocutaneous' syndrome to describe this group of malformations. Three other cases have subsequently been reported.24 We review the features in(More)
Familial transmission of del (18p) syndrome from a mother to her daughter is rare and has been reported only once before. We report a female patient referred to us at age 18 years because of mental retardation associated with short stature. Similar clinical features are also seen in her mother. Chromosome analysis revealed a 46,XX, del (18) (p11.2)(More)