Results 81 to 90 of about 17,999 (210)

First-trimester prenatal diagnosis of Ellis–van Creveld syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To present the perinatal findings and first-trimester molecular and transabdominal ultrasound diagnosis of a fetus with Ellis–van Creveld (EvC) syndrome.
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang   +4 more
doaj   +1 more source

Preaxial polydactyly of the foot

Acta Orthopaedica, 2017
Background and purpose — Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes.
E. Burger, M. Baas, S. Hovius, A. Hoogeboom, C. V. van Nieuwenhoven   +4 more
semanticscholar   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype—A case report and literature review

Molecular Genetics & Genomic Medicine
Background Retinoblastoma (Rb) is the most common intraocular malignancy in childhood, originating from primitive retinal stem cells or cone precursor cells. It can be triggered by mutations of the RB1 gene or amplification of the MYCN gene.
Xiaohuan Pi, Qiming Zhang, Xinghua Wang, Fagang Jiang   +3 more
doaj   +1 more source

Evaluation and Management of Preaxial Polydactyly

Current Reviews in Musculoskeletal Medicine, 2020
B. H. Rogers, Sandra Schmieg, Meagan Pehnke, Apurva S. Shah   +3 more
semanticscholar   +1 more source

ISOLATED TYPE II PREAXIAL POLYDACTYLY WITH RADIAL DEVIATION OF THE TERMINAL PHALANGES: A CASE REPORT

National Journal of Medical Research, 2019
Isolated type II preaxial polydactyly is relatively less common compared with other types, moreover with radial deviation to proximal phalange. Treatment involves excision of the more hypoplastic thumb and reconstruction of the more developed thumb to ...
Edwin W Thioritz, Henry Yurianto, M Ruksal Saleh   +2 more
doaj  

The Mckusick-Kaufman syndrome: report of a case with some associations

The Turkish Journal of Pediatrics, 2002
McKusick-Kaufman syndrome (MKS) is a rare autosomal recessive condition consisting of congenital hydrometrocolpos, polydactyly and congenital heart defect.
Esin Kotiloğlu, Handan Kaya, Ilter Güney, Sevim Balci   +3 more
doaj  

Bilateral Postaxial Polydactyly of the Feet in an Adult: Surgical Management and Outcomes. [PDF]

Cureus
Aljefri A, Batouk OA, Esmaiel AA, Ahmad Z, Saber A.   +4 more
europepmc   +1 more source

Polydactyly

, 2010
Yuranga Weerakkody, Lam Le, Fernando Savi   +2 more
  +4 more sources

Large Nonosseous Preaxial Polydactyly: Unique Case With Vascular Proliferation and Subepidermal Bullae. [PDF]

Hand (N Y)
Rogoff HM, Prodoehl JP, Lee K, Li L, Kauffman CA.   +4 more
europepmc   +1 more source