Results 51 to 60 of about 4,694 (215)

Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum

Egyptian Journal of Medical Human Genetics, 2016
We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid.
Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad   +2 more
doaj   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Seasonal variation in the incidence of congenital talipes equinovarus

, 1991
A review of 77 neonates who presented with congenital talipes equinovarus over a seven-year period revealed an increase in the condition amongst babies born in the winter quarter.
RN Villar, GA Pryor, PM Scott, A Ronen
core   +1 more source

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

Acta Obstetricia et Gynecologica Scandinavica
Introduction The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus.
Edouard Leyne, Olivia Anselem, Pénélope Jordan, Alexandre J. Vivanti, Alexandra Benachi, Laurent Salomon, Mathilde Jacquier, Jean‐Marie Jouannic, Ferdinand Dhombres, Tatiana Cambier, Jonathan Rosenblatt, Emmanuelle Pannier, François Goffinet, Vassilis Tsatsaris, Yoann Athiel   +14 more
doaj   +1 more source

Outcomes of the Clubfoot Treatment with the Ponseti Method: Recurrence and Prognostic Factors

Journal of Orthopedic and Spine Trauma, 2022
Background: Clubfoot is a multifactorial disease with the prevalence of one in 1000 live births. The presentations of clubfoot are forefoot adductus, hindfoot varus, cavus, and equinus.
Arash Maleki, Seyed Reza Aghapour, Abaalfadel abbas saleh   +2 more
doaj   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Talectomy For Recurrent And Resistant Talipes Equinovarus

, 2004
OBJECTIVE: To report the results of talectomy in the treatment of recurrent/resistant talipes equinovarus deformity during the last twenty years at the National Orthopaedic Hospital Enugu. Nigeria.
CU Nwadinigwe, Nwadinigwe, CU
core   +1 more source

Multidisciplinary management of clubfeet using the Ponseti method in a district general hospital setting

Journal of Children's Orthopaedics, 2008
Purpose Idiopathic congenital talipes equinovarus (CTEV) is a relatively common complex deformity of the foot that can be successfully managed by the Ponseti method.
Rebecca Kampa, Katherine Binks, Mia Dunkley, Christopher Coates   +3 more
doaj   +1 more source

Anatomical–Motor Level Discrepancy in Prenatal Diagnosis of Open Spinal Dysraphism: A 12‐Year Retrospective Observational Study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 12, Page 2188-2195, November 2026.
ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo, Elena Moreno, Mar Meléndez, Carlos Giné, Carlota Rodó, Alba Casellas, Alba Farràs, Manel Mendoza, Nerea Maiz   +8 more
wiley   +1 more source

A Novel De Novo MTM1 Insertion Frameshift Variant Causes X‐Linked Myotubular Myopathy in a Chinese Female

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
A 24‐year‐old heterozygous woman presented with lifelong hypotonia and slowly progressive, asymmetric axial and limb‐girdle weakness with facial/ocular involvement and restrictive ventilatory impairment (FVC 53.12% predicted). Multimodal evaluation (EMG, muscle MRI, and whole‐exome sequencing [WES]) identified a de novo MTM1 frameshift variant ...
Lijun Chen, Yingxiao Bao, Gonglu Liu
wiley   +1 more source