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Orthopaedics & Traumatology, Surgery &... Feb 2020Congenital pathologies of the forefoot encompass two broad entities with vastly different treatments and prognosis: malformations, which occur during the embryonic... (Review)
Review
Congenital pathologies of the forefoot encompass two broad entities with vastly different treatments and prognosis: malformations, which occur during the embryonic period and cause anatomical defects, and deformations, which occur during the fetal period on a foot that is configured normally. These deformities are more easily cured when they occur later during the fetal period. When the anomaly is bilateral, a genetic origin must be considered. There are two main entities under the term "deformity": metatarsus adductus and skewfoot (aka "Z"-foot or serpentine foot). Within malformations are brachydactyly (transverse defects), longitudinal defects, syndactyly, polydactyly, clinodactyly and macrodactyly. Among other forefoot abnormalities are hallux valgus, which rarely presents in congenital form, and for which conservative treatment is sometimes sufficient. Also in this group are sequelae of amniotic band constriction, forefoot anomalies secondary to the treatment of congenital pathologies (talipes equinovarus and congenital vertical talus) and nail-related pathologies (ingrown toe nail and incorrect nail position).
Topics: Child; Foot Deformities, Congenital; Global Health; Humans; Incidence; Metatarsal Bones; Radiography
PubMed: 31648997
DOI: 10.1016/j.otsr.2019.03.021 -
Therapeutics and Clinical Risk... 2023The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for... (Review)
Review
The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to the base of the cilium. Clinical features of BBS patients are widely shared with patients suffering from other ciliopathies, especially autosomal recessive syndromic disorders; moreover, mutations in cilia-related genes can cause different clinical ciliopathy entities. Besides the best-known clinical features, as retinal degeneration, learning disabilities, polydactyly, obesity and renal defects, several additional clinical signs have been reported in BBS, expanding our understanding of the complexity of its clinical spectrum. The present review aims to describe the current knowledge of BBS i) pathophysiology, ii) clinical manifestations, highlighting both the most common and the less described features, iii) current and future perspective for treatment.
PubMed: 36741589
DOI: 10.2147/TCRM.S338653 -
Journal of Ayub Medical College,... 2018Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B.Ellis and Simon Van...
Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B.Ellis and Simon Van Creveld in 1940. Parental consanguinity is present in about 30% of the cases. A large number of cases were reported in Amish population of Lancaster County, Pennsylvania USA and also in Aboriginal community of Australia in 1964. The incidence in Amish population is 1/5000 live births and in general population 7/1,000,000. There are only 150 cases reported worldwide. The principal feature of this syndrome is a tetrad of disproportionate dwarfism, ectodermal dysplasia, bilateral postaxial polydactyly and congenital heart defects.
Topics: Child; Consanguinity; Ellis-Van Creveld Syndrome; Female; Genu Valgum; Humans; Male
PubMed: 30465389
DOI: No ID Found -
Journal of Pediatric Neurosciences 2017Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important...
Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this write-up, we report an extremely rare syndrome associated with polydactyly that is Pallister-Hall syndrome. A 10-month-old male child born by lower segment cesarean section presented with global delay associated with microcephaly, frontal bossing, hypertelorism, flat nose, short philtrum, incomplete cleft in the upper lip and hard palate, polydactyly, and syndactyly. The child presented with repeated vomiting and crying episodes. The patient was investigated which revealed a hypothalamic hamartomas. Pallister-Hall syndrome is a very rare autosomal dominant genetic disorder due to mutation in GLI3 gene in the short arm of chromosome 7 with variable penetrance and expressivity.
PubMed: 29204208
DOI: 10.4103/jpn.JPN_101_17