Results 61 to 70 of about 4,542 (216)

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
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, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Clinical outcome of congenital talipes equinovarus diagnosed antenatally by ultrasound

, 2000
Congenital talipes equinovarus is a common anomaly which can now be diagnosed prenatally on a routine ultrasound scan at 20 weeks of gestation. Prenatal counselling is increasingly offered to parents with affected fetuses, but it is difficult to counsel
R. L. Tillett, K. Murphy, D. M. Hunt, N. M. Fisk   +3 more
core   +1 more source

Congenital talipes equinovarus: II. A staged method of surgical management

, 1987
A staged method of surgical management for congenital talipes equinovarus is described. The hindfoot was corrected and rebalanced early in 125 feet, and in 66 feet a second-stage medial forefoot correction was performed in the second, third or fourth ...
RW Porter
core   +1 more source

Paralytic congenital talipes equinovarus of unknown origin: A new entity. Multicenter study of 42 cases [PDF]

, 2012
SummaryBackgroundParalysis of the lateral and/or anterior leg muscles can lead to relapse of treated talipes equinovarus.HypothesisThe muscle function impairment is due to isolated permanent paralysis, and early palliative tendon transfer may prevent ...
Rampal, V., Roux, A., Laville, J.M., Seringe, R., Salmeron, F.   +4 more
core   +1 more source

Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

Egyptian Journal of Medical Human Genetics, 2015
We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing.
Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad   +2 more
doaj   +1 more source

Weight‐Bearing Lunge Test in Young Patients With Haemophilia and Limited Joint Damage: Reliability and Functional Associations for Ankle Assessment

Haemophilia, Volume 32, Issue 4, Page 1042-1048, July/August 2026.
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, Selin Aytac, Adalet Elcin Yildiz, Hande Guney Deniz   +3 more
wiley   +1 more source

Surgical treatment of neglected congenital idiopathic talipes equinovarus after walking age in Eritrea: an Italo-Eritrean cooperation

, 2016
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, TRAINA, FRANCESCO, Yosief, M., FALDINI, CESARE, Tsegay, S., NANNI, MATTEO, PUNGETTI, CAMILLA, Tesfaghiorghi, S., Sanzarello, I.   +8 more
core   +1 more source

The results of talipes equinovarus treated by ponseti technique

, 2010
Tıpta Uzmanlık TeziAyağın doğumsal ve cerrahi dışı yöntemlerle düzeltilebilir bir deformitesi olan Talipes equinovarus `un tedavi görmemiş geç dönem sonuçları ayağın fonksiyonel anatomisini bozarak morbidite yaratmaktadır.
Dülger, Hakan
core   +1 more source

Closely Monitored Successful Full‐Term Delivery in a Woman With Spondyloepiphyseal Dysplasia Congenita: A Case Report and Literature Review

Journal of Obstetrics and Gynaecology Research, Volume 52, Issue 7, July 2026.
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, Motoki Ono, Motoko Kamiya, Yusuke Yokokawa, Yasuhiro Tanaka, Ryoichi Asaka, Chiho Fuseya, Norihiko Kikuchi, Tanri Shiozawa, Tsutomu Miyamoto   +9 more
wiley   +1 more source

A Four-year Review of Delayed Initial Treatment of Patients with Congenital Talipes equinovarus in a General Hospital [PDF]

, 2015
Congenital Talipes Equinovarus (CTEV), or club foot, is a common congenital orthopaedic abnormality of the foot, which is easily diagnosed but difficult to treat perfectly.
Yoyos DI
core   +1 more source