Results 101 to 110 of about 598,158 (213)

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

Clinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti, Xenia Latypova, Faustine Ageorges, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Georges Gelwane, Cherine Benzouid, Yline Capri   +9 more
wiley   +1 more source

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

Clinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle, Laurence Loeuillet, Bettina Bessieres, Lucile Boutaud, Sarah Grotto, Nicolas Bourgon, Maryse Bonniere, Jelena Martinovic, Aude Tessier, Nathalie Roux, Giulia Petrilli, Naima Talhi, Marion Lesieur‐Sebellin, Jérémy Bertrand, Anaïs L'haridon, Aurélie Coussement, Marie‐Laure Maurin, Marie‐Paule Beaujard, Valérie Malan, Férechté Razavi, Tania Attie‐Bitach   +20 more
wiley   +1 more source

Clubfoot: an updated review

Journal of the Foot & Ankle
Congenital talipes equinovarus, commonly referred to as clubfoot, is one of the most frequent congenital deformities of the lower limb. Over the last few decades, a major paradigm shift has occurred in its management, with the Ponseti method becoming ...
Alexandre Francisco de Lourenço
doaj   +1 more source

Unclassified congenital deformities of the external ear

, 2018
Congenital ear deformities are a common entity. They are found in isolation or as a part of syndrome in patients. They may involve the external, middle or inner ear or in any of these combinations.
Madhubari Vathulya
core   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source

Effect of structural foot deformities on foot function in the elderly

, 2006
Purpose: This study was undertaken to determine how structural foot problems affected foot function and walking speed in the elderly. Materials and methods: Thirty nine elderly retirement home residents without significant disease and an average age of ...
Erel, Suat, Yakut, Yavuz, MUTLU, AKMER, KAVLAK, YASEMİN, BEK, NİLGÜN, Uygur, Fatma, Simsek, Engin   +6 more
core   +2 more sources

A case of caudal regression syndrome: walking or sitting?

The Pan African Medical Journal, 2014
Caudal regression syndrome (CRS) is a congenital disorder which is seen vertebral anomalies in varying degrees from lower thoracic spineto the level of the coccyx.
Irem Bicakci, Selin Turan Turgut, Bekir Turgut, Afitap Icagasioglu, Zeliha Egilmez, Yasemin Yumusakhuylu   +5 more
doaj   +1 more source

The Influence of Physical Therapy on Congenital Deformities in the Foot Region.

, 2013
Tato bakalářská práce se zabývá problematikou vrozených vad v oblasti nohy. Práce je rozdělena na teoretickou a praktickou část. V teoretické části se nejprve zabývám anatomií a kineziologií nohy, věnuji se charakteristice jednotlivých vad a popisuji ...
Tatíčková, Eliška
core  

Children's and young people's perspectives on extended reality in paediatric rehabilitation: A qualitative study

Developmental Medicine &Child Neurology, EarlyView.
Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo, Audrey Ferron, Marietta Kersale, Aurelie Merrer, Enora Croguennec, Sylvain Brochard, Danielle E. Levac, Rodolphe Bailly, Christelle Pons   +8 more
wiley   +1 more source

Reverse club foot. Rigid and recalcitrant talipes calcaneovalgus

, 1987
We describe a congenital deformity of the foot which is characterised by calcaneus at the ankle and valgus at the subtalar joint; spontaneous improvement does not occur and serial casting results in incomplete or impermanent correction of the ...
MB Menelaus, ER Edwards
core   +1 more source