Results 51 to 60 of about 14,956 (269)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

The effect of abductor hallucis tendon release on residual adductus deformity in the surgical treatment of congenital clubfoot

Acta Orthopaedica et Traumatologica Turcica, 2020
Objectives: We evaluated the effect of abductor hallucis (AH) tendon release on residual adductus deformity in the surgical treatment of congenital clubfoot.\r\nMethods: The study included 35 patients with congenital clubfoot. Thirteen patients (group 1,
Ahmet Dogan, Onat Uzumcugil, Merter Yalcinkaya, Gazi Zorer   +3 more
doaj   +1 more source

Caudal Regression Syndrome with Pressure Ulcers of the Foot: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2017
Caudal Regression Syndrome (CRS) is a rare disorder which consists of abnormalities in the lumbosacral spine, rectum, urinary system and lower limbs.
Kosaku Yamamichi, Tsuyoshi Manabe, Tatsuya Uekihara   +2 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Chircop, Marcelle, Ellul, Marthese, Grech, Victor E., Grixti, Charles J.   +3 more
core  

First report of polymelia and a rudimentary wing in a Nigerian Nera black chicken [PDF]

, 2013
A case of polymelia with a rudimentary wing is described in an eight-week-old Nera black chicken (Gallus domesticus). It is a rare disorder with chromosomal aberrations, which are associated with congenital limb malformations.
Ademola A. Oyagbemi, Odunayo I. Azeez
core   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Defining and Differentiating Congenital Vertical Talus and Congenital Oblique Talus

JBJS Open Access
Background:. Congenital vertical talus (CVT) and congenital oblique talus (COT) are rocker-bottom foot deformities that have similar names and no objective definitions.
Vincent S. Mosca, MD, Dhiren Ganjwala, MS(Ortho), Hitesh Shah, MS(Ortho)   +2 more
doaj   +1 more source