Results 11 to 20 of about 251 (197)
Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)
Journal of Oral Biology and Craniofacial Research, 2014 Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is ...
Monika Koul +2 more
doaj +1 more source
A Case of Vander Woude Syndrome with Rare Phenotypic Expressions [PDF]
Journal of Clinical and Diagnostic Research, 2014 Van der Woude syndrome (VWS) is a rare developmental disorder with an autosomal dominant inheritance. The prevalence of VWS varies from 1:100,000 to 1:40,000 still born or live births.
Anurag Tripathi +4 more
doaj +1 more source
Scientific Journal, 2022 Congenital cleft foot is a rare anomaly that exhibits many morphological variations. The typical cleft foot is characterized by congenital absence of one or several median rays bordering the cleft. Treatment has been focused on improving function and aesthetic appearance.
openaire +1 more source
Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Children, 2023 Background: The diagnostic process for children and adults manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured process. Material and Methods: Six girls (aged 6-month–8 years) and two older girls (aged 13
Ali Al Kaissi +6 more
doaj +1 more source
Frontiers in Pediatrics, 2015 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births.
Deepak eSharma +5 more
doaj +1 more source
Frontiers in Pediatrics, 2023 Nonketotic hyperglycinemia (NKH) is in most cases a fatal inborn error of metabolism which usually presents during the neonatal period as encephalopathy and refractory seizures.
Rapeepat Thewamit +5 more
doaj +1 more source
TP63 mutation mapping information in TP63 mutation-associated syndromes
Advances in Oral and Maxillofacial Surgery, 2022 The transcription factor tumour protein 63, encoded by the TP63 gene, is a regulator of epidermal development. Heterozygous mutations in TP63 cause a variety of human ectodermal dysplasia disorders, including ankyloblepharon-ectodermal defects-cleft lip ...
Yosuke Harazono +7 more
doaj +1 more source
Trisomy 18 syndrome with cleft foot. [PDF]
Journal of Medical Genetics, 1988 Ectrodactyly of the feet has been reported only twice in association with trisomy 18 syndrome. A severe form of this anomaly, the first with published illustrative x rays, is described in a male infant with trisomy 18 syndrome. It is suggested that this may represent an extreme expression of the foot anomalies more commonly associated with this ...
D, Castle, R, Bernstein
openaire +2 more sources
Italian Journal of Pediatrics, 2022 Background Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations.
Gregorio Serra +6 more
doaj +1 more source
Cleft foot: A case report and review of literature
World Journal of Orthopedics, 2020 Cleft foot is a very rare congenital anomaly, which is characterized by central rays deficiency of the foot. It is also known as split foot or ectrodactyly of the foot, and it is very often combined with splitting of the hands. The defect develops due to insufficient activity of the median apical ectodermal ridge, which leads to an increase in cell ...
Sergey S, Leonchuk +2 more
openaire +2 more sources