Results 101 to 110 of about 4,843 (273)

Bilateral Anterior Shoulder Dislocation [PDF]

open access: yes, 2014
Introduction: Unilateral anterior shoulder dislocation is one of the most common problems encountered in orthopedic practice. However, simultaneous bilateral anterior dislocation of the shoulders is quite rare. Case Presentation: We report a case of a
Lui, T. H., Siu, Y. C.
core   +1 more source

CATSHL syndrome, a new family and phenotypic expansion

open access: yesClinical Genetics, Volume 105, Issue 3, Page 313-316, March 2024.
A novel heterozygous variant of FGFR3 was identified in 2 members of the same family affected by CAmptodactyly – Tall stature – Scoliosis – Hearing Loss (CATSHL) syndrome with some shared features with Lacrimo – Auricolo – Dento – Digital (LADD) syndrome. LADD and CATSHL syndromes could be further evidences of high pleiotropy of FGFR3.
Silvia Cannova   +8 more
wiley   +1 more source

Characterization of novel MSX1 variants causally associated with non‐syndromic oligodontia in Chinese families

open access: yesMolecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.
We ascertained three new MSX1 variants in three unrelated Chinese non‐syndromic oligodontia (NSO) families: one insertion variant (c.576_577insTAG (p. Gln193 *)) and two missense variants (c.871T>C (p.Tyr291His); c.644A>C (p.Gln215Pro)). Immunofluorescence analysis revealed that truncated MSX1 (p. Gln193*) localized in the cytoplasm.
Ya Zhao   +6 more
wiley   +1 more source

Anhidrotic Ectodermal Dysplasia in a Child Due to a Rare Mutation in the EDA Gene (a Clinical Case)

open access: yesЖурнал медико-биологических исследований
Anhidrotic ectodermal dysplasia is а heterogenous genetic disorder with multiple clinical manifestations. In medical examinations, including dental examinations, the differential aspect of diagnosis is important, since many forms of the disease have ...
Sergey N. Levitskiy   +2 more
doaj   +1 more source

Customized Prosthetic Oral Rehabilitation of a Child with Hypohidrotic Ectodermal Dysplasia: A Case Report [PDF]

open access: yesJournal of South Asian Association of Pediatric Dentistry
The present case report describes interdisciplinary prosthetic oral rehabilitation of a 7-year-old male child presenting classical features of hypohidrotic ectodermal dysplasia (HED) and subtotal anodontia. The treatment, in this case, was simplified and
Hitesh Chander Mittal   +4 more
doaj   +1 more source

Prosthetic rehabilitation of a patient with ectrodactyly‐ectodermal dysplasia‐cleft lip/palate syndrome through a hybrid workflow: A case report with 2‐year follow‐up

open access: yesSpecial Care in Dentistry, Volume 44, Issue 1, Page 96-102, January/February 2024.
Abstract Aim Ectrodactyly‐ectodermal dysplasia‐cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands. Prosthetic rehabilitation of patients with EEC syndrome is essential towards improving their overall quality of life. Methods and Results In the case shown,
Gréta Török   +6 more
wiley   +1 more source

Removable Partial Dentures vs Overdentures in Children with Ectodermal Dysplasia: Two Case Reports [PDF]

open access: yes, 2016
Ectodermal dysplasia (ED) represents a disorder group characterised by abnormal development of the ectodermal derivatives. Removable partial dentures (RPD), complete dentures (CD) or overdentures (OD) are most often the treatment of choice for young ...
Angelopoulou, Matina V.   +3 more
core   +1 more source

Colloquy [PDF]

open access: yes, 2002
A collection of responses to previously published ...

core   +1 more source

Clinical parameters of the local anesthetic effects of bupivacaine applied with and without a vasoconstrictor in oral implantology [PDF]

open access: yes, 2007
Background/Aim. Bupivacaine (Marcaine®), homologue of mepivacaine, chemically related to lidocaine, is used as a local anesthetic for local infiltration, peripheral nerve block, retrobulbar block, symphathetic block, and caudal and epidural anesthesia ...
Bubalo Marija   +5 more
core   +1 more source

Ectodermal dysplasia with true anodontia

open access: yesJournal of Oral and Maxillofacial Pathology, 2011
The hereditary condition known as ectodermal dysplasia is characterized by the absence or defect of two or more ectodermally derived structures. The most commonly observed forms of ectodermal dysplasia are the hidrotic and hypohidrotic types; discrimination is based on the absence or presence of sweat glands.
Bala, Madhu, Pathak, Anuradha
openaire   +3 more sources

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