Results 31 to 40 of about 22,168 (264)
BARDET-BIEDL SYNDROME – CASE PRESENTATION [PDF]
Romanian Journal of Pediatrics, 2015 Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight ...
Sorin Ioan Iurian +3 more
doaj +1 more source
Preaxial polydactyly of the foot in an adult patient diagnosed by X-ray after a trauma
Radiology Case Reports, 2023 Polydactyly, or hyperdactyly, is a frequent malformation, with a reported incidence between 0.37 and 1.2 per 1000 live births. Most cases encountered in medical practice are sporadic cases, usually presenting one-sided manifestations.
Anna Russo, MD +7 more
doaj +1 more source
Urinary Type Hydrometrocolpos and Polydactyly in Two Newborns: Case Report [PDF]
Iranian Journal of Neonatology, 2021 Background: Abdominal masses secondary to urinary retention are rare among female neonates and approaching this pathologic condition, inevitably, poses a diagnostic challenge.
Ziba Mosayebi +6 more
doaj +1 more source
Preaxial polydactyly of the foot: Clinical and genetic implications for the orthopedic practice based on a literature review and 76 patients [PDF]
, 2017 Background and purpose — Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes.
Baas, M. (Martijn) +4 more
core +1 more source
Preferential associated anomalies in 818 cases of microtia in South america [PDF]
, 2013 The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for
Castilla, Eduardo Enrique +5 more
core +3 more sources
Frontiers in Genetics, 2022 Postaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs.
Lihong Fan +6 more
doaj +1 more source
A role for Tctex-1 (DYNLT1) in controlling primary cilium length [PDF]
, 2011 The microtubule motor complex cytoplasmic dynein is known to be involved in multiple processes including endomembrane organization and trafficking, mitosis, and microtubule organization.
MacCarthy-Morrogh, LJ +3 more
core +2 more sources
Why Five Fingers? Evolutionary Constraints on Digit Numbers [PDF]
, 2001 Evolutionary changes in the number of digits and other limb elements appear to be severely constrained, probably as a result of a low level of modularity during limb development. Reduced limb structures typically develop through a process of construction
Alphen, J.J.M. van +2 more
core +1 more source
Radiology Case Reports, 2019 Preaxial polydactyly, which refers to the duplication of the first digital ray, sporadically occurs in 8 per 100,000 births among African and Caucasian populations.
Meltem Özdemir, MD
doaj +1 more source
Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome [PDF]
, 2016 Runs of homozygosity for Lundehund specific regions in 500-SNP windows. The chromosomal position of ROH regions, number of SNPs in these regions (n), size in base pairs (size_bp), canine genes (gene) and human orthologues (human gene) are shown. (XLSX 88
Julia Metzger +2 more
core +8 more sources