Results 81 to 90 of about 4,694 (215)

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

Congenital talipes equinovarus: I. Resolving and resistant deformities

, 1987
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

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

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

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., Faldini, C, Tsegay, S, Traina, F, Nanni, M, Yosief, M, SANZARELLO, ILARIA, Pungetti, C, Prosperi, L, Tesfaghiorghi, S   +17 more
core   +1 more source

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child

Egyptian Journal of Medical Human Genetics, 2017
We report a 2.5 year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome. The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted ...
Rabah M. Shawky, Radwa Gamal
doaj   +1 more source

Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Paternal uniparental disomy of chromosome 6 (UPD6pat) is associated with transient neonatal diabetes mellitus and multisystem developmental anomalies, but the mechanisms underlying its phenotypic variability remain unclear. This study integrates amniotic fluid cfRNA transcriptome analysis and molecular diagnostics, identifying 372 differentially ...
Jiahui Yu, Yan Zhang, Wenlong Shen, Jun Ying, Huanzheng Li, Xiaohua Tang, Xujun He   +6 more
wiley   +1 more source

The results of talipes equinovarus treated by ponseti technique [PDF]

, 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

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca, Chiara Bosetti, Federico Ruoli, Liviana Fontanel, Marco Mazza, Enza Maria Valente, Roberta Battini, Edoardo Errichiello   +7 more
wiley   +1 more source

Lack of seasonal variation in idiopathic talipes equinovarus.

, 2006
BACKGROUND: One proposed etiology of idiopathic talipes equinovarus is an in utero enterovirus infection. Enterovirus infections demonstrate seasonal variation in temperate climates.
Hamby Z, Chesney D, Loder RT, Carney B, MAFFULLI, Nicola, Drvaric DM, Barker S   +6 more
core