| evidence for additional frem1 heterogeneity in manitoba oculotrichoanal syndrome. | manitoba oculotrichoanal (mota) syndrome is an autosomal recessive disorder present in first nations families that is characterized by ocular (cryptophthalmos), facial, and genital anomalies. at the commencement of this study, its genetic basis was undefined. | 2012 | 22690109 |
| screening for congenital adrenal hyperplasia: distribution of 17 alpha-hydroxyprogesterone concentrations in neonatal blood spot specimens. | in a retrospective analysis of 24 cases of congenital adrenal hyperplasia (cah) in neonates born in the province of manitoba during the last 20 years, we set out to determine whether patients, in particular male infants with salt-losing cah, were being missed by the usual forms of clinical ascertainment. although the overall incidence of 1/14,500 live births was similar to that found in several screening surveys, a skewed female/male sex ratio of 2.2:1 suggested probable death among male infants ... | 1989 | 2784166 |