Congenital Anosmia

Supporting Information - PNAS
Supporting Information Tornberg et al. 10.1073/pnas.1102284108 SI Text Human Pedigrees with IHH and HS6ST1 Mutations. congenital anosmia, a cleft palate, and bilateral genu valgus. He presented at the age of 15 y with prepubertal testes, anosmia, and ... Retrieve Content

Anosmie - Wikipedia
The Congenital Anosmia Forums; The Smell and Taste Treatment & Research Foundation; Literatuurverwijzingen a b ... Read Article

Genetic Overlap Between Holoprosencephaly And Kallmann Syndrome
Berty followed by secondary amenorrhea, congenital anosmia, absent olfactory bulbs in the MRI, and low estradiol (E2) in the setting of normal gonadotropin levels (single measurements), thus representing mild GnRH deficiency [Shaw et al., 2011], was ... Fetch Here

439 - Perelman School Of Medicine At The University Of ...
AJRI66, February 1996 MR IMAGING OF CONGENITAL HYPOSMIA OR ANOSMIA 443 believe that soft tissue revealed by MA imaging in the region ... Read Here

Link Between Pain And Olfaction In An Inherited Sodium ...
Link Between Pain and Olfaction in an Inherited Sodium Channelopathy Frank Zufall, PhD; Martina Pyrski, PhD; Jan Weiss, PhD; Trese Leinders-Zufall, PhD I (congenital general anosmia) in mice andhumans.ThesefindingsareofspecialclinicalrelevancebecauseNa v ... View This Document

Hypothyroidism And Iron: Anemia And Hemochromatosis
A look at the relationship between hypothyroidism and iron levels, and conditions such as anemia and hemachromatosis, from your About.com Guide ... Read Article

Review TRENDS In Endocrinology & Metabolism Vol.13 No.3 April ...
With additional congenital anosmia in about 50% of cases constituting KS. Hypothalamic GnRH stimulates the release of LH and FSH from the pituitary, and is essential for gametogenesis and gonadal steroid production [1]. In situations where exogenous pulsatile ... Document Viewer

Kallmann Syndrome: MR Evaluation Of Olfactory System
Kallmann Syndrome: MR Evaluation of Olfactory System David M. Yousem, 1 William J. D. Turner,2 Cheng Li, thereof in association with congenital anosmia and hypothalamic hypogonadism supports the diagnosis of Kallmann syndrome. ... Retrieve Doc

November, I9oo. Rhinology] , And Otology.
Blood-poisoning and erysipelas, also congenital anosmia due to defects in, or absence of, bulb, tract, or cortical olfactory centres, lastly pigmentary atrophy, which probably affects the ganglion cells. Respiratory or mechanical anosmia is caused by anything that ... Fetch Here

Kallmann Syndrome With FGFR1 And KAL1 Mutations Detected ...
Setting of partial pubertal development and congenital anomalies (anosmia, hearing loss, missing teeth) Kallmann syndrome with partial gonadotropin deficiency was suspected [2, 18]. MRI revealed bilateral agenesis of the olfactory bulbs and of the left olfactory tract, as ... Get Doc

Loss-of-Function Mutation In The Prokineticin 2 Gene Causes ...
Brothers had congenital anosmia, and the sister was normosmic. These data suggest a role for other gene(s) and/or environmental cues acting as modifiers of the olfactory phenotype. It is well known that the olfactory system and GnRH neuron migration are intimately ... Read Document

NIDCD Fact Sheet Taste And Smell
NIDCD Fact Sheet | Taste and Smell. Smell Disorders . How common are smell disorders? Your sense of smell helps you enjoy life. congenital anosmia. } Parosmia [pahr-OZE-mee-ah] is a change in the normal perception of odors, such as the smell of something ... Retrieve Document

Olfactory Disorders And Quality Of Life—An Updated Review
Titative smell disorders (anosmia, hyposmia) can be differ-entiated from normal olfactory function. Whereas most olfactory disorders are acquired, there are some patients congenital anosmia (0–4%) (Nordin and Bramerson 2008). ... Read Full Source

Brain Awareness Video Contest: Congenital Anosmia - YouTube
Www.sfn.org/bavc 2013 First Place Travis Grenier Link: http://www.youtube.com/watch?v=jpKWcZ ... View Video

Incidence, Phenotypic Features And Molecular Genetics Of ...
Genetics of Kallmann Syndrome in Finland Background: Kallmann syndrome (KS), comprised of congenital hypogonadotropic hypogonadism (HH) and anosmia, is a clinically and genetically heterogeneous disorder. Its exact incidence is currently unknown, and a ... Access Doc

Posttraumatic Anosmia And Ageusia : Young Il Joung, M.D.1 ...
Infection, surgical trauma and congenital defects4,6,7,17,18). Despite the relatively high prevalence, traumatic anosmia and ageusia between patients with fracture and those without fracture (Table 2). However, when recovery ... Return Doc

Mutations In Fibroblast Growth Factor Receptor 1 Cause Both ...
Congenital anosmia (16/40) with normal puberty. The mother (case Mutations in Fibroblast Growth Factor Receptor 1 Cause Both Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism Created Date: 20080404040404Z ... Fetch Document

Loss-of-function Mutation In The Prokineticin 2gene Causes ...
Causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism brothers had congenital anosmia, and the sister was normosmic. These data suggest a role for other gene(s) and/or environmental cues acting as modifiers of the olfactory phenotype. ... Doc Retrieval

Pathology Of The Olfactory Nerve
Congenital Anosmia Largely based on the work by Yousem and col-leagues, magnetic resonance–based imaging of the OB has found its way into clinical practice (Fig. 6). Today the diagnosis of isolated congenital anosmia or Kallmann’s syndrome centers on ... View Full Source

Olfactory Disorders
Types of Smell Disorders Anosmia : NO smell Hyposmia : decreased smell Also called microsmia & partial anosmia Dysosmia : distortion Phantosmia Degeneration Schizophrenia Migraine Hyperemesis gravidarum & hyperosmia A number of systemic diseases Some Medicines Congenital anosmia References ... Retrieve Here