Results 1 to 10 of about 1,915 (178)
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination [PDF]
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.
Aakash Pandita, Dnb
exaly +3 more sources
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
exaly +3 more sources
Molecular Genetics & Genomic Medicine, 2023 Background Oral clefts and ectrodactyly are common, heterogeneous birth defects. We performed whole‐exome sequencing (WES) analysis in a Syrian family.
Claire L. Simpson +11 more
doaj +1 more source
Split Hand/Foot Malformation with Long Bone Deficiency: A Report of Two Female Siblings [PDF]
Journal of Clinical and Diagnostic Research, 2021 Spilt Hand/Foot Malformation with Long-bone Deficiency (SHFMLD) is a rare heterogeneous group of limb malformations characterised by absence/hypoplasia and/or median cleft of hands and/or feet associated with long bone abnormalities, most frequently ...
Mohammed ALI Al-SHEHAB +3 more
doaj +1 more source
Oral Clefts with Associated Anomalies: Findings in the Hungarian Congenital Abnormality Registry [PDF]
, 2005 BACKGROUND: Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data
Czeizel, Andrew E. +2 more
core +3 more sources
Gollop-Wolfgang Complex: Clinical and Imaging Implications
Indian Journal of Radiology and Imaging, 2021 Gollop-Wolfgang complex is defined as the presence of a distal bifid femur and tibial hemimelia with or without hand ectrodactyly. The condition commonly presents with several skeletal abnormalities and internal organ congenital defects. We hereby report
Robert Hunter Vanderberg +3 more
doaj +1 more source
Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing [PDF]
, 2016 First published: 11 July 2016Abstract not availableChristopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng,
Barnett, C. +12 more
core +1 more source
Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2014 Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in
Reema Sharma Dhar, Amitava Bora
doaj +1 more source
Case Reports in Dentistry, 2020 Ectrodactyly-ectodermal dysplasia clefting syndrome is a rare genetic disorder characterized by the triad of ectrodactyly-ectodermal dysplasia and facial clefting of lip or palate or both along with some systemic manifestations. Although each defect that
Anamika Bharati +5 more
doaj +1 more source
Congenital deformity of the distal extremities in three dogs [PDF]
, 2016 Congenital limb deformities are very rare conditions and the knowledge about etiology, pathogenesis, clinical presentation and treatment is still poor. Moreover, many defects are still not reported in veterinary literature. This report documents clinical
Della Valle, G. +4 more
core +4 more sources