A 7-yr-old boy visited our surgical center with Pfeiffer syndrome type 1, presenting with macrocrania, broad big toe and thumb, exophthalmos, tongue protrusion, malocclusion with midfacial retrusion, mild respiratory difficulty due to minor upper airway obstruction, and developmental delay. He also exhibited anthrophobia with a passive character. The patient was treated with internal monoblock ...

AIM To evaluate the effect of shunt selection on the rate of shunt revision due to early shunt complications in neonatal myelomeningocele-associated hydrocephalus. MATERIAL AND METHODS The data of 157 neonatal myelomeningocele cases in three pediatric neurosurgery centers (Ankara University, Kocaeli University, Selcuk University) who underwent shunt surgery at the time of myelomeningocele rep...

To cite: Gomes C, Dias FMA, Franco L, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-211571 DESCRIPTION There is currently great focus on prevention of mineral and bone disorder from early stages of chronic kidney disease (CKD) in children. Nowadays, the extreme complications of bone disorder in end-stage CKD are rarely seen in developed countries. H...

Aim of the Study: The aim is to analyse epidemiological, clinical and CT aspects hydrocephalus in children. Method: This was a cross-sectional descriptive study with retrospective collection from 1 June 2021 31 December 2022 within radiology department Charles De Gaulle Pediatric Teaching Hospital Ouagadougou, Burkina Faso. included records patients who underwent cerebral computed tomography th...

Kenny-Caffey syndrome (KCS) is characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. The autosomal dominant form (KCS Type 2) caused by mutations in FAM111A is distinguished from the autosomal recessive form (KCS Type1), caused by mutations in TBCE gene, by the...

www.aafp.org/afp AMERICAN FAMILY PHYSICIAN 625 assessment (Table 1) should generate sufficient information to make a diagnosis. The questions contained in this assessment can guide the physician in assigning a patient’s symptom complex to the appropriate temporal pattern (Table 2) and help identify patients who warrant further diagnostic testing. The general physical examination must include de...

PURPOSE Germline mutations of the SUFU gene have been shown to be associated with genetic predisposition to medulloblastoma, mainly in families with multiple cases of medulloblastoma and/or in patients with symptoms similar to those of Gorlin syndrome. To evaluate the contribution of these mutations to the genesis of sporadic medulloblastomas, we screened a series of unselected patients with me...

Excessive secretion of growth hormone after epiphysial fusion will produce the clinical features of acromegaly, which is not in itself associated with increased stature. Before closure of the epiphyses this situation will lead to gigantism, which is confined almost exclusively to the adolescent age-group in its first appearance. Though con-comitant enlargement of some of the extremities is not ...

how to cite this article: talebian a, soltani b, moravveji ar, salamati l, davami m. a study on causes and types of abnormal increase in infants’ head circumference in kashan/iran. iran j child neurol. 2013 summer; 7(3): 28- 33.   objective head circumference is a valuable index of brain growth and its disturbances can indicate different disorders of nervous system. abnormal increased head circ...