7673 Genetic Analysis and Clinical Characterization of Patients with Congenital Hypopituitarism Due to Gene Defects [PDF]
J Endocr SocT M Sasson +3 more
europepmc +2 more sources
Septo-Opticdysplasia with an Anterior Encephalocele and Intact Septum Pellucidum: A Case Report [PDF]
, 2008 ObjectiveThe diagnosis of de Morsier syndrome or septo-optic dysplasia is made on the basis of the diagnosis of optic nerve hypoplasia. Septo-optic dysplasia is defined by a variable combination of dysgenesis of midline brain structures including optic ...
Razavi, Z.
core +2 more sources
Oman Journal of Ophthalmology, 2013 Optic nerve hypoplasia (ONH) is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. With a vast number of cases now being reported, the rarity of ONH is obviously now refuted.
Savleen Kaur +4 more
doaj +1 more source
Pituitary stalk interruption syndrome presenting in a euthyroid adult with short stature
Radiology Case Reports, 2018 Pituitary stalk interruption syndrome (PSIS) is a distinct and rare clinical entity responsible for congenital hypopituitarism resulting in deficiency of pituitary hormones with deficiency of the growth hormone (100%) and gonadotropins (97.2%) being its ...
Atif Nawaz, MBBS, FCPS-I, FRCR-I +2 more
doaj
Strabismic syndromes and syndromic strabismus - a brief review [PDF]
arXiv, 2015 Strabismus can be found in association with congenital heart diseases, for examples, in velocardiofacial (DiGeorge) syndrome, Down syndrome, mild dysmorphic features, in CHARGE association, Turner syndrome, Ullrich-Turner syndrome, cardiofaciocutaneous syndrome.1-4 Some types of strabismus is heritable (e.g.
arxiv
Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge to Diagnose at an Early Stage [PDF]
, 2015 Débora Braslavsky +10 more
openalex +1 more source
Identification of Key Proteins Involved in Axon Guidance Related Disorders: A Systems Biology Approach [PDF]
arXiv, 2018 Axon guidance is a crucial process for growth of the central and peripheral nervous systems. In this study, 3 axon guidance related disorders, namely- Duane Retraction Syndrome (DRS) , Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) and Congenital fibrosis of the extraocular muscles type 3 (CFEOM3) were studied using various Systems Biology ...
arxiv
Reduced Hepatocellular Expression of Canalicular Transport Proteins in Infants with Neonatal Cholestasis and Congenital Hypopituitarism [PDF]
, 2018 Tassos Grammatikopoulos +6 more
openalex +1 more source
The importance and impact of discoveries about neural crest fates [PDF]
Development (Cambridge, England), Company of Biologists, In press, 2018 We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it produces, their migratory capacities and plasticity, and the still-growing list of tissues that depend on their presence for form and function, continue to ...
arxiv
Pre-hospital management of acute Addison’s Disease – Audit of patients attending a referral hospital in a regional area [PDF]
, 2019 Context: Adrenal crises (AC) cause morbidity and mortality in patients with Addison’s disease [primary adrenal insufficiency (PAI)]. Patient-initiated oral stress dosing, with parenteral hydrocortisone, is recommended to avert ACs. While these should be
Goubar, Thomas +3 more
core +1 more source