Results 101 to 110 of about 331,220 (329)

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Review of the financial and medicolegal implications of nasal fractures seen at St Luke’s Hospital [PDF]

, 2008
Simple nasal bone fractures are the third most common type of all fractures leading to numerous patient visits at the Accident & Emergency department.
Borg Xuereb, Hermann K., Sciberras, Nadia C.   +1 more
core  

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

A STUDY ON CHRONIC OTITIS MEDIA ACTIVE MUCOSAL TYPE WITH SINUSITIS AS FOCAL SEPSIS [PDF]

, 2012
AIM : To establish the role of Sinusitis as Focal sepsis in Chronic Otitis media active mucosal disease, to emphasizethe need of proper diagnostic endoscopic evaluation and improvement in middle ear mucosal disease status afterfunctional endoscopic sinus
Gopalakrishnan, Shankaranarayanan, Kumar, Sathish   +1 more
core   +1 more source

Preoperative digital three-dimensional planning for rhinoplasty [PDF]

, 2010
BACKGROUND: This report describes preoperative digital planning for rhinoplasty using a new three-dimensional (3D) radiologic viewer that allows both patients and surgeons to visualize on a common monitor the 3D real aspect of the nose in its inner and ...
Carreno Hernandez E., Gonzalez Ballester L., Herrero Jover J., Moscatiello F., PIOMBINO, PASQUALE   +4 more
core   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

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

A study of the attitudes of mothers toward children born with a cleft palate [PDF]

, 1961
Thesis (M.S.)--Boston ...
Davis, Anmarie
core  

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

Aesthetic rhinoplasty: Avoiding unfavourable results

Indian Journal of Plastic Surgery, 2013
Rhinoplasty is one of the most challenging surgical procedures in plastic surgery. It is not surprising that a significant number of patients end up with unfavourable outcomes.
Kulwant S Bhangoo
doaj   +1 more source