China
Africa
Explore chapters and articles related to this topic
Congenital Hand
Published in J. Terrence Jose Jerome, Clinical Examination of the Hand, 2022
Radial polydactyly is documented in high proportions in Native American and Asian populations [35]. Most cases are unilateral, sporadic and without systemic problems [36]. The Wassel classification is most widely used, although the true nature of the thumbs is usually not apparent because the skeletons are immature in the children. Wassel type IV is the most common type and recently subtyped into type IVA (hypoplastic type), IVB (ulnar deviated type), IVC (divergent type) and IVD (convergent type) [37]. A radially deviated type should be also considered [38]. In triplicate digit, a rare type of polydactyly, the most developed proximal components and most developed distal components are often in different rays, therefore the ray transfer is needed for the surgery [39].
Genetics and metabolic disorders
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
Neural tube defects such as meningomyelocoele are inherited in a multifactorial manner. Talipes is associated with a recurrence risk of about 3% after the birth of an affected child, which suggests multifactorial causes. Some cases of talipes are due to abnormal posture in utero. All forms of galactosaemia are autosomal recessive in inheritance. Polydactyly not associated with any other abnormality is autosomal dominant with incomplete penetrance. Turner syndrome is due to a chromosome abnormality involving loss (45,X) or rearrangement of the X chromosome.
Fetal Structural Malformations and Recurrent Pregnancy Loss
Published in Howard J.A. Carp, Recurrent Pregnancy Loss, 2020
Howard J.A. Carp, Thomas Philipp, Micha Baum, Michal Berkenstadt
Limb defects such as polydactyly, oligodactyly, syndactyly, split-hand/split-foot malformation, and transverse limb reduction defects are the most commonly observed malformations. Polydactyly may occur as isolated malformation or may be part of a malformation syndrome, either of which may be genetic or of unknown origin. Postaxial polydactyly is common in trisomy 13 [15]. Syndactyly may be part of a genetic malformation syndrome. Syndactyly, which can be seen from the end of the 8th week when the fingers become free, is common in triploidy [15]. The split-hand/split-foot malformation can be a part of numerous syndromes, such as ectodermal dysplasia, ectodactyly, and clefts, and is often found in chromosome 15 trisomy. In transverse limb reduction defect, the distal structures of the limb are absent, with proximal parts are being more or less normal. These are due to a disruption sequence presumed to be due to peripheral ischemia [16]. The recurrence risk in future pregnancies is minimal [15].
Clinical Presentations and Diagnostic Imaging of VACTERL Association
Published in Fetal and Pediatric Pathology, 2023
Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
The word “association”, by definition, is different from “syndrome”. A set of related symptoms characterizes syndromes, whereas associations are nonrandom interactions. Associations represent the idiopathic occurrence of multiple congenital anomalies during blastogenesis. The key concept is the implication that different causal factors, acting at certain stages in development, cause similar patterns of defects [17]. Developmental defects occurring during blastogenesis are polytopic and originate in two or more progenitor fields, for instance, anorectal anomalies. Monotopic defects arise during organogenesis, which involves one genetic field. Polydactyly, one of the many clinical symptoms of VACTERL association, is caused by a monotopic defect during organogenesis. “Clinical heterogeneity” depends on when the different factors (genetic and/or environmental) act, therefore resulting in either an isolated developmental field defect (DFD) or a DFD associated with other patterns of malformations. The development field is a region or part of the embryo which responds as a coordinated unit to embryonic induction and results in complex or multiple anatomic structures [18]. Etiological heterogeneity is one of the known characteristics of the DFD.
A Comprehensive Study Regarding the Intrauterine Development of Nails
Published in Organogenesis, 2021
Octavian Munteanu, Florin-Mihail Filipoiu, Monica Mihaela Cirstoiu, Andra-Ioana Băloiu, Ioan-Andrei Petrescu, Roxana Elena Bohiltea
The specimens have been preserved in 10% neutral buffered formalin solution. Previously to the analysis, each specimen was removed from the formaldehyde solution and rested on a surgical tray for half an hour. This procedure ensures the visibility of the small-scale features that could otherwise be deteriorated by manually drying attempts. Due to the fact that one fetus presented polydactyly in the lower limbs, a total of 412 fingers and toes have been subjected to the analysis, upon which nine fingers and toes were excluded from the results due to extensive deterioration, lesions or stains, thus examining a total of 403 fingers and toes. The specimens have been organized into five groups corresponding to the gestational ages, as follows: Group 1 is comprised of embryos between 6 and 8 weeks of gestation, Group 2 – between 8 and 12 weeks, Group 3 – between 12 and 15 weeks, Group 4 – between 15 and 25 weeks, and Group 5 – between 25 and 28 weeks of gestation.
C syndrome - what do we know and what could the future hold?
Published in Expert Opinion on Orphan Drugs, 2019
Roser Urreizti, Daniel Grinberg, Susanna Balcells
Recent studies have identified two heterozygous mutations in the IFT140 gene in one patient diagnosed as OCS [33]. Both mutations would lead to the loss of the functional protein (initiation codon loss and splice site mutation). This gene is associated with short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9; MIM # 266,920), a ciliopathy associated with skeletal and renal dysplasia, retinal pigmentary dystrophy and cerebellar ataxia. Polydactyly is also a common trait for these patients. These authors suggested that many of the OCS symptoms overlap with those of a cilliopathy, including dysplasia of kidneys, liver and pancreas with cystic changes, as well as some of the skeletal anomalies observed in some OCS patients, and highlight that retinitis pigmentosa, together with Caroli’s syndrome and renal failure, was also previously described in another OCS patient [24].