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Split-Hand/Foot Malformation

Known as: Ectrodactyly, FEWER DIGITS 
A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands… 
National Institutes of Health

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Clinical Data Interchange Standards Consortium TerminologyEctrodactylyHereditary DiseasesSplit hand foot deformity 1

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update
We here provide an update on the clinical, genetic, and molecular aspects of split‐hand/foot malformation (SHFM). This rare… 
2010
2010
Homozygous nonsense mutation in WNT10B and sporadic split‐hand/foot malformation (SHFM) with autosomal recessive inheritance
Split‐hand/foot malformation (SHFM) is a limb malformation affecting the central rays of the hands and/or feet. Isolated SHFM… 
Highly Cited
1998
Highly Cited
1998
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.
Congenital limb malformations rank behind only congenital heart disease as the most common birth defects observed in infants… 
Review
1996
Review
1996
The EEC syndrome: a literature study.
Analysis of 230 published cases of the EEC syndrome revealed that, besides the cardinal symptoms (ectrodactyly, ectodermal… 
1991
1991
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations
Familial cases (a grandfather, a father and a daughter) of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip… 
1991
1991
Potentiating effect of caffeine on the teratogenicity of acetazolamide in C57BL/6J mice.
Pregnant C57BL/6J mice were treated with 0 or 50 mg of caffeine (CAFF) per kg, and 0, 200 mg/kg (L) or 1,000 mg/kg (H) of… 
Highly Cited
1985
Highly Cited
1985
EEC syndrome without ectrodactyly? Report of 8 cases
Eight cases are presented from two families with a variable manifestation of the EEC syndrome. In the first family only one of… 
Highly Cited
1984
Highly Cited
1984
Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome.
1971
1971
Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter.
1. A family is reported in which tibial aplasia with polydactyly of hands and feet and absent thumbs occurred in a father and… 
Highly Cited
1970
Highly Cited
1970
Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate.
The association of ectrodactyly, atypical anhidrotic ectodermal dysplasia, and cleft lip and cleft palate is described in a 3… 
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