Weismann-Netter-Stuhl Syndrome:A family report

Weismann-Netter-Stuhl (WNS) syndrome is a rare skeletal anomaly that affects the diaphyseal part of both the tibiae and fibulae with posterior cortical thickening and anteroposterior bowing. This anomaly is usually bilateral and symmetrical. The patients are generally of short stature. In some cases, a family history suggesting genetic transmission of a mutation with an unknown locus has been reported. In this paper we present an infant with WNS syndrome with bilateral involvement of the femur. Similar clinical findings were defined in three other family members

Atherogenic Lipid Profile and Systolic Blood Pressure are Associated with Carotid Artery Intima-media Thickness in Children with Turner Syndrome

Objective: Women with Turner syndrome (TS) have greater carotid artery intima-media thickness (cIMT) known to be a risk factor for atherosclerosis in adults. To determine whether there are risk factors for atherosclerosis in children with TS, we compared cIMT, anthropometric and metabolic parameters between children with TS and healthy controls

Allergic Reaction Following Implantation of A Blood Glucose Sensor

Our patient, a seven-year-old boy, was followed with the diagnosis of type 1 diabetes since six years old, and he was started to check his blood glucose levels via The FreeStyle Libre 10 days ago. However, he developed severe pruritis after implantation. After removing the sensor, skin irritation and a local cutaneous reaction, probably allergic reaction to the sensor containing the latex was detected. The patient did not report a history of allergy to medications or adhesive tapes. The sensor patch was removed, and dermatitis was resolved by the application of topical creams containing corticosteroids

Al-Awadi/Raas-Rothschild Syndrome in a Newborn with Additional Anomalies

Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14th week of gestation. This report emphasizes the importance of recognizing severe pelvic and limb deficiencies in newborns with AARR syndrome and differentiating the syndrome from other multiple malformation syndromes. Fetal ultrasonography at 15th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus

Prevalence of Metabolic Syndrome in Obese Children and Adolescents using Three Different Criteria and Evaluation of Risk Factors

Objective: To compare the prevalence of the metabolic syndrome (MS) in Turkish obese children and adolescents by using three different definitions and to assess the risk factors through a retrospective evaluation of anthropometric and laboratory parameters

Ghrelin Levels and Postnatal Growth in Healthy Infants 0-3 Months of Age

Objective: The effect of ghrelin on growth of the newborn has long been argued, but not fully clarified. In this study, we aimed to investigate the relationship between ghrelin levels and growth parameters in the first 3 months of life

Hyperparathyroidism in pediatrics

Paratiroid hormon; kalsiyum ve fosfor dengesinde kemik, gastrointestinal sistem ve böbrekler üzerinde etkisiyle temel rol oynamaktadır. Patolojik durumlarda paratiroid hormonun aşırı artışı kemik sağlığı üzerinde olumsuz etkiler göstermektedir. Paratiroid hormonun birçok etkisinin anlaşılması iskelette anabolik ajan olarak tedavide kullanılmasına imkan sağlamıştır. Bu derlemede paratiroid hormonun sekresyonu ve etkisi özetlenmekte ve çocuklarda nadiren görülen hiperparatiroidizm tartışılmaktadır.Parathyroid hormone plays a vital role in the maintenance of calcium and phosphorus homeostasis through its complex interplay between the kidney, the gastrointestinal tract, and bone. Under pathologic circumstances, parathyroid hormone excess exerts a deleterious effect on skeletal health. Recent enhanced understanding of the manifold actions of parathyroid hormone has allowed its therapeutic application as a skeletal anabolic agent. This review summarizes the basic physiology regulating parathyroid hormone secretion and describes the pathologic conditions associated with parathyroid hormone excess in children

A rare cause of tall stature: Sotos syndrome

Sotos syndrome is an excessive growth syndrome and is characterized by macrocephaly, typical facial appearance and mental retardation. The majority of cases are sporadic, autosomal dominant inheritance pattern matching families have been reported. Syndrome responsible for gen encodes the nuclear receptor-binding SET domain1 (NSD1) protein. This rare genetic syndrome firstly described by Sotos et al. in 1964 at five cases with excessive height, acromegalic appearance and mild mental retardation. Hairline high forehead, macrocephaly, frontal bossing, long and thin face, frontotemporal hair sparseness, down slanting palpebral fissures and prominent mandible creating characteristic facial appearance and advanced bone age and varying degrees of mental retardation are other diagnostic criteria. Cardiovascular, central nervous system and genitourinary system anomalies may be associated with syndrome. In this case report we presenting a case who admitted to our clinic because of the rapid growth and mild mental retardation and diagnosed with Sotos syndrome for emphasize the importance of growth monitoring