A systematic review and meta-analyses of pregnancy and fetal outcomes in women with multiple sclerosis: a contribution from the IMI2 ConcePTION project. [PDF]
, 2020 Neurologists managing women with Multiple Sclerosis (MS) need information about the safety of disease modifying drugs (DMDs) during pregnancy. However, this knowledge is limited.
A Haghikia +20 more
core +1 more source
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. [PDF]
, 2015 The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly.
Daniel H. Cohn +12 more
core +2 more sources
Clinical Management and Treatment of Polydactyly
Turkish Journal of Plastic Surgery, 2017 Objective: Polydactyly is one of the most common congenital anomalies of the hand and foot, and was first recorded in the hand in 1670. The extra digit rarely contains bone, and instead usually presents as a small piece of soft tissue.
Uğur Horoz +5 more
doaj +1 more source
Pediatric Hand Surgery Training in Nicaragua: A Sustainable Model of Surgical Education in a Resource-Poor Environment. [PDF]
, 2017 Recent reports have demonstrated that nearly two-thirds of the world's population do not have access to adequate surgical care, a burden that is borne disproportionately by residents of resource-poor countries.
James, Michelle A +3 more
core +1 more source
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing
Computational and Structural Biotechnology Journal, 2021 Purpose: Polydactyly is a highly heterogeneous group of skeletal deformities in clinical and genetic background. The variation spectrum in Chinese sporadic polydactyly has not been comprehensively analyzed.
Bailing Zu +8 more
doaj +1 more source
Preaxial Polydactyly in an Elderly Woman
Case Reports in Orthopedics, 2022 A 70-year-old woman born and raised in India presented with Wassel type IV preaxial polydactyly of the right thumb and difficulty performing daily activities.
Barkha Chhabra +2 more
doaj +1 more source
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. [PDF]
, 2016 Purpose:To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations:Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical ...
Collins, Christin D +6 more
core +2 more sources
Case Report Of Short Rib Polydactyly Syndrome
Journal of Clinical and Biomedical Sciences, 2019 Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with dif-ferent prenatal sonographic
Anshul Singh +3 more
doaj +1 more source
Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons
Plastic and Reconstructive Surgery, Global Open, 2021 Summary:. Although polydactyly is quite common in general, preaxial polydactyly of the foot is rare (0.4 per 10,000 patients) and specifically associated with certain congenital abnormalities and syndromes, which can include craniosynostosis, corpus ...
Max L. Silverstein, BS +2 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background Polydactyly is a common genetic limb deformity characterized by the presence of extra fingers or toes. This anomaly may occur in isolation (nonsyndromic) or as part of a syndrome.
Muhammad Umair +6 more
doaj +1 more source