Results 121 to 130 of about 334,163 (380)

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

The managament of rare nasal mass-nasal dermoid sinus cysts: open rhinoplasty

Rare Tumors, 2009
The differential diagnosis of midline nasal masses includes inflammatory lesions, post-traumatic deformities, benign neoplasms, malignant neoplasms, congenital and vascular masses.
Emel Cadalli Tatar, Omer Tarik Selcuk, Guleser Saylam, Ali Ozdek, Hakan Korkmaz   +4 more
doaj   +1 more source

Cleft Lip and Palate Deformity: A Problem Affecting People Around the World [PDF]

, 2012
Cleft lip and palate deformities are abnormalities most commonly seen in third world countries. There are many ways to repair them, but first it is determined whether the cleft is unilateral or bilateral.
Thompson, Brittani L
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An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Nasal obstruction as a drug side effect

Therapeutic Advances in Respiratory Disease, 2011
Nasal obstruction is a common symptom of various diseases, allergies, and structural deformities and a ‘stuffy nose’ is one of the most common reasons that patients seek a physician’s aid.
Cemal Cingi, Tunis Ozdoganoglu, Murat Songu   +2 more
doaj   +1 more source

'Bochanan modhail foghlaimte': Tiree Gaelic, lexicology and Glasgow's historical dictionary of Scottish Gaelic [PDF]

, 2008
The present paper is intended as a modest contribution towards the study of Tiree Gaelic, particularly its lexicon, drawing on a small part of the archives of the Historical Dictionary of Scottish Gaelic (HDSG) held in the Department of Celtic ...
Ó Maolalaigh, R.
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Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Rhinoplasty Using Autologous Costal Cartilage in a Patient with Acrodysostosis

Plastic and Reconstructive Surgery, Global Open
Summary:. Acrodysostosis, a rare congenital syndrome, is characterized by peripheral dysostosis, nasal hypoplasia, mental retardation, and other skeletal deformities.
Lilia Kase, MD, Shinsuke Akita, MD, PhD, Yoshihiro Onouchi, MD, PhD, Keiko Yamazaki, DVM, PhD, Nobuyuki Mitsukawa, MD, PhD   +4 more
doaj   +1 more source

بازسازی کامل بینی پس از تخریب به علت گرانولوماتوز وگنر [PDF]

, 2014
تغییر شکل بینی یکی از عوارض ضایع در گرانولوماتوز وگنر است که علت آن درگیری عروق سایز متوسط می¬باشد. این بیماری می¬تواند منجر به نکروز و تخریب مخاط بینی و اسکلت استخوانی غضروفی شود.
حافظی, فرهاد, عبادی, محمدرضا, نقیب زاده, بیژن, نوحی, امیر حسین, کاظمی آشتیانی, عباس   +4 more
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