Results 21 to 30 of about 2,513 (173)
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia
Molecular Genetics and Metabolism Reports, 2014 Congenital Disorder of Glycosylation type Ig (ALG12-CDG) is part of a group of autosomal recessive conditions caused by deficiency of proteins involved in the assembly of dolichol-oligosaccharides used for protein N-glycosylation.
Chaya Murali +8 more
doaj +1 more source
Clinical Presentation of Congenital Talipes Equinovarus via Detailed Case Scenarios
Journal of Bone and Joint Diseases, 2021 Background: Clubfoot is a developmental deformity stirring at ankle, sub-taloid, and metatarsal joints. This deformity includes three elements: the foot inversion; forefoot-adduction relative to the hindfoot; and equinus position.
Vaishnavi Pandey +5 more
doaj +1 more source
Incidence of congenital talipes equinovarus among children in southeast nigeria [PDF]
International Journal of Biological and Medical Research, 2011 Congenital talipes equinovarus (CTEV)/ club foot occurs at least 2 per 1000 live births. It has two forms: syndromic and idiopathic. The objective of the study was to determine the incidence of talipes equinovarus (club foot) among children in Nnamdi ...
Ukoha U +1 more
doaj
Soft tissue operations for congenital talipes equinovarus
Acta Orthopaedica et Traumatologica Turcica, 2021 The patients that had a soft tlssue operation for club foot between september 1984 and september 1989 at Ankara University Medical Faculty were retrospectively evaluated. There were 85 feet on 58 patients of which 36 were male. In 46% of the patients the
H. Serdar Ozbarlas +5 more
doaj
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 +2 more
doaj +1 more source
Overcoming Barriers: A Study on Family Experiences and Treatment Adherence in Congenital Talipes Equinovarus in Kutch District, Gujarat [PDF]
Journal of Orthopedics and Joint SurgeryBackground: The Ponseti method is widely recognized as the gold standard for managing congenital clubfoot, offering an effective, low-cost alternative to surgical interventions.
Vishal Pushkarna +2 more
doaj +1 more source
Fetal varicella syndrome: A rare case report and literature review
Clinical Dermatology Review, 2022 Fetal varicella syndrome (FVS) is an extremely rare condition of the newborn, characterized by cutaneous scars, limb defects, ocular, and central nervous system abnormalities. It follows maternal varicella infection during early pregnancy.
Abhishek S Patokar +4 more
doaj +1 more source
Unilateral Phrenic Nerve Palsy in Infants with Congenital Zika Syndrome
Emerging Infectious Diseases, 2018 Since the first identification of neonatal microcephaly cases associated with congenital Zika virus infection in Brazil in 2015, a distinctive constellation of clinical features of congenital Zika syndrome has been described.
Nipunie S. Rajapakse +9 more
doaj +1 more source
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 +3 more
doaj +1 more source
Congenital Talipes Equinovarus
The Professional Medical Journal, 2012 Objectives: To determine the functional outcome of one stage posteromedial release in congenital clubfoot in terms offunctional and radiological assessment. Methodology: Forty five patients having clubfoot deformity were included in the study. Fifteen patientshad bilateral deformities. The outcome was evaluated by functionally assessing the foot in the
Muhammad IMRAN KHAN +3 more
openaire +3 more sources