OBJECTIVES To establish a normal range for fetal adrenal gland length at 11-13 weeks' gestation and to investigate whether the length is altered in fetal trisomy 18. METHODS Fetal adrenal gland length was measured by three-dimensional ultrasound in fetuses at low risk of aneuploidies (n = 400) and another group at high risk, including 380 euploid fetuses and 41 with trisomy 18. The data of th...

From the Developmental Endocrinology Branch, National Institute of Child Health and Human Development (D.P.M., T.T., J.B., G.B.C.); and the U.S. Public Health Service (D.P.M., J.B.) — both in Bethesda, Md. Address reprint requests to Dr. Merke at DEB/NICHD/NIH, Bldg. 10, Rm. 10N262, 10 Center Dr., MSC 1862, Bethesda, MD 20892-1862, or at [email protected]. ©1999, Massachusetts Medical Socie...

We describe 2 siblings with the contiguous X-linked gene deletion syndrome, complex glycerol kinase deficiency. The elder sibling demonstrated the difficulties diagnosing this rare condition. Affected children have the combined complications of congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency. These patients illustrate the importance of genetic testing ...

AND WILLIAM ANTON)L, M.D. D URING THE COURSE of studying the effects of massive doses of cortisone on mice, it was noted that a pronounced lymphoid hypoplasia and a lymphopenia in the peripheral blood occurred.’ In view of these findings a study of the total blood eosinophils, lymphocytes and granulocytes and hemoglobin was made. The first two of these blood elements have been shown to decrease...

We describe 2 siblings with the contiguous X-linked gene deletion syndrome, complex glycerol kinase deficiency. The elder sibling demonstrated the difficulties diagnosing this rare condition. Affected children have the combined complications of congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency. These patients illustrate the importance of genetic testing ...

published by kzhang on Mon, 09/08/2014 4:25pm Title Novel human pathological mutations. Gene symbol: NROB1. Disease: adrenal hypoplasia. Publication Type Journal Article Year of Publication 2009 Authors Nie, M, Fu, Y, Lu, L, Pan, H, Mao, J, Chen, Z, Zhang, K, Xia, W, Xing, X, Meili, S, Lu, Z Journal Hum Genet Volume 125 Issue 3 Pagination 348 Date Published 2009 Apr ISSN 1432-1203