Results 61 to 70 of about 242,527 (213)
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem +9 more
wiley +1 more source
Congenital talipes equinovarus: I. Resolving and resistant deformities
Comparisons were made between 54 children with resolving congenital talipes equinovarus deformity and 81 children whose feet required surgical correction.
RW Porter
core +1 more source
Evaluation of Ponseti method in correction of congenital talipes equinovarus [PDF]
<p class="abstract"><strong>Background:</strong> Congenital idiopathic clubfoot is a complex foot deformity often requires many months of treatment and frequently resulted in incomplete or defective correction by older methods ...
Shinde, Gopal M. +9 more
core +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
BACKGROUND: When faced with developing orthopaedic services for children in Sub-Saharan Africa, there is little objective evidence-based data on the magnitude and type of services needed.
Simms, V +14 more
core +1 more source
ABSTRACT Introduction Performance‐based measures are essential for detecting early musculoskeletal functional limitations in patients with haemophilia (PwH). The Weight‐Bearing Lunge Test (WBLT) assesses ankle dorsiflexion mobility, but its psychometric properties in PwH remain unclear.
Firat Tan +3 more
wiley +1 more source
An Italian team of orthopaedic surgeons joined Eritrean colleagues to perform a clinical study in ambulating children affected by neglected idiopathic congenital talipes equinovarus (clubfoot). This study reports the surgical strategy as well as clinical
PROSPERI, LUIGI +8 more
core +1 more source
Freeman-Sheldon Syndrome: A Rare Case Report with Dental Perspective
Freeman-Sheldon syndrome is a rare form of multiple congenital contracture syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis. The main skeletal malformations include camptodactyly with ulnar deviation and talipes equinovarus
Sahil Mustafa Kidwai +3 more
doaj +1 more source
ABSTRACT Spondyloepiphyseal dysplasia congenita (SEDC) is a rare skeletal dysplasia caused by heterozygous pathogenic variants in COL2A1, with short‐trunk stature and respiratory compromise during pregnancy. We report a 30‐year‐old primigravida with SEDC who achieved full‐term delivery under multidisciplinary management.
Masako Ueki +9 more
wiley +1 more source
Turco’s Postero-Medial Release for Congenital Talipes Equino-Varus
Background: Talipes equino-varus is the most common congenital orthopaedic anomaly. There are various methods for its management. This study was conducted to determine the efficacy of Turco’s one stage postero-medial release in children with congenital ...
Shakir Hussain +4 more
doaj

