Results 1 to 10 of about 160 (87)

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

open access: yesJournal 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

Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography

open access: yesAJP Reports, 2016
Introduction Ectrodactyly, also known as split hand/foot malformation, is a rare developmental abnormality of the limbs that consists of absent central digits, a deep median cleft, and fusion of the remaining lateral digits, ultimately producing clawlike
Matthew Blitz
exaly   +3 more sources

A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly

open access: yesMolecular 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]

open access: yesJournal 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

Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

open access: yesJournal 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

Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome: A Case Report of Its Dental Management with 2 Years Follow-Up

open access: yesCase 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

Ectrodactyly: A rare anomaly of limbs

open access: yesJournal of Dr. NTR University of Health Sciences, 2015
Ectrodactyly refers to the congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of central rays.
Nirmala SVSG   +4 more
doaj   +1 more source

Gollop-Wolfgang Complex: Clinical and Imaging Implications

open access: yesIndian 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

Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report

open access: yesJournal of Medical Case Reports, 2012
Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate).
Metwalley Kalil Kotb, Fargalley Hekma
doaj   +1 more source

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

open access: yesContemporary Clinical Dentistry, 2012
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature.
P K Shivaprakash   +3 more
doaj   +1 more source

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