ABSTRACT
Cornelia de Lange syndrome is a rare congenital disease,which was firstly reported on 1933.It usually causes multiple organs dysplasia.Clinical manifestations include severe growth retardation,cogni-tive impairment,characteristic facial and upper limb defects.With the rapid development of medical science,es-pecially in genetics and molecular biology,much research on the pathogenesis of Cornelia De Lange syndrome has been performed.Herein,we review the progress in this rare disease in recent years.
ABSTRACT
Human height is mainly regulated by the hypothalamus-pituitary-growth hormone axis, and also affected by other factors,such as nutrition and physical activity. Genetic factor is thought to be the main fac-tor,and genetic degree is about 80%. At present,genetic analysis in short stature has made great progresses both at home and abroad,and genes related to the height are more than 180. The article reviews some of the major genes related to the short stature,including the genes related to the adenohypophysis development,the genes re-lated to the GHRH-GH-IGF1 axis,as well as other related gene mutations and performance.
ABSTRACT
Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hyperteloris, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features and diagnosis of triple X syndrome, we present a rare phenotype of the syndrome. A 5.9 year-old girls was admitted to our hospital because of short stature. Both her height and weight were below the 3[rd] percentile compared to the normal peers. She was found with mild motor and speech delay. Laboratory investigation showed low level of IGF-1 and zinc, elevated estradiol level and normal result of arginine provocation test. Our data suggest that triple X syndrome should also be suspected in patients with short stature, elevated estradiol and low level of IGF-1, even with normal result of arginine provocation test
Subject(s)
Adolescent , Child , Child, Preschool , China/epidemiology , Female , Humans , Infant , Lead/blood , Lead Poisoning/epidemiology , MaleABSTRACT
<p><b>OBJECTIVE</b>To determine whether lead affects brainstem auditory evoked potentials (BAEPs) in low-to-moderate lead exposed children.</p><p><b>METHODS</b>BAEPs were recorded from 114 asymptomatic children aged 1 - 6 years. Average values were calculated for peak latency (PL) and amplitude (Amp). Whole blood lead (PbB) levels were assessed by graphite furnace atomic absorption spectroscopy. Based on their PbB levels, subjects were divided into low lead (PbB < 100 micro g/L) and high lead subgroups (PbB > or = 100 micro g/L).</p><p><b>RESULTS</b>The PbB levels of the 114 subjects ranged from 32.0 to 380.0 micro g/L in a positively skewed distribution. The median of PbB levels was 90.0 micro g/L while the arithmetic average was 88.0 micro g/L. Of the subjects, 43.0% (49/114) had levels equal to or greater than 100 micro g/L. Bilateral PLs I, V, and III of the left ear in the high lead subgroup were significantly longer than those in the low lead subgroup (P < 0.05). A positive correlation was found between PbB levels and bilateral PLs I, V and III of the left ear (P < 0.05), after controlling for age and gender as confounding factors. A significant and positive correlation between PbB levels and PL I of the left ear, even when PbB levels were lower than 100 micro g/L, in the low subgroup (r = 0.295, P = 0.019) was also found.</p><p><b>CONCLUSIONS</b>Lead poisoning in children younger than 6 years old is a very serious problem to which close attention should be paid. The indications that lead prolongs partial PLs may imply that lead, even at PbB levels lower than 100 micro g/L, impairs both the peripheral and the central portions of the auditory system. BAEPs may be a sensitive detector of subclinical lead exposure effects on the nervous system in children.</p>