Search results for " Growth delay"
showing 2 items of 2 documents
Homozygosity for a Mutation in the CYP11B2 Gene and GH Deficiency in a Child with Severe Growth Delay
2015
Background: Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types 1 and 2. In type 1, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type 2, a residual activity of aldosterone synthase persists and 18 OHB is overproduced. Objective and hypotheses: Isolated aldosterone synthase deficiency should be considered in neonates and infants with failure to thrive and salt wasting. Normal levels of…
Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction.
2022
Abstract Background Congenital syphilis (CS) depends on the placental transmission of Treponema pallidum (TP) spirochetes from an infected mother to fetus during pregnancy. It shows a wide clinical variability with cutaneous and visceral manifestations, including stillbirths, neonatal death, and asymptomatic cases. Preterm infants with CS may have more severe features of disease than the term ones, due to the combined pathogenic effect of both CS and prematurity. Case presentation We report on a female preterm (32+6 weeks of gestation) newborn showing most of the typical CS manifestations, in addition to gastrointestinal disorders including feeding difficulties, colon stenosis and malabsorp…