Results 101 to 110 of about 292,456 (300)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy +15 more
wiley +1 more source
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 +17 more
wiley +1 more source
Novel Intragenic Duplication of GATAD2B in a Patient With GAND
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori +9 more
wiley +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Over-rotated Rieger flap for a large lateral nasal tip defect reconstruction
Dermatology ReportsA 65-year-old man presented with a Melanoma in situ of the nasal tip. Complete excision was achieved after 2 “Slow Mohs” stages, resulting in a circular 2.7 X 2.4 cm defect involving the right lateral nasal tip, dorsum and sidewall and extending to the ...
Ernesto De Piano +2 more
doaj +1 more source
V-Y advancement flap for the treatment of a large compound nevus mole over the nasal dorsum
, 2023 Qi-chao Jian +3 more
openalex +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan +77 more
wiley +1 more source
Philippine Journal of Otolaryngology Head and Neck Surgery, 2023 A 48-year-old, non-hypertensive, non diabetic man with uncontrolled gouty arthritis presented with a four-day swollen nasal mass. He was assessed to have a nasal abscess at the emergency room and was admitted for urgent management.
Ma. Paula Engedi Delmendo +1 more
doaj
Filling the nasal dorsum with Gore-tex in rhinoplasties [PDF]
, 2011 Rodrigo Otávio Gontijo Tostes +7 more
openalex +1 more source
Correction to: Doppler Ultrasonographic Anatomy of the Midline Nasal Dorsum [PDF]
, 2021 Hyoung-Jin Moon +4 more
openalex +1 more source