نتایج جستجو برای: ectrodactyly

تعداد نتایج: 300  

Journal: :journal of dental school, shahid beheshti university of medical sciences 0
جمیله بیگم طاهری jamile beygom taheri dental school, shahid beheshti university of medical sciences, tehran-iran.دانشکده دندانپزشکی، دانشگاه علوم پزشکی شهید بهشتی سمیه عظیمی somayyeh azimi dental school, shahid beheshti university of medical sciences, tehran-iran.دانشکده دندانپزشکی، دانشگاه علوم پزشکی شهید بهشتی حامد مرتضوی hamed mortazavi dental school, shahid beheshti university of medical sciences, tehran-iran.دانشکده دندانپزشکی، دانشگاه علوم پزشکی شهید بهشتی سمیه بابایی somayyeh babaee dental school, shahid beheshti university of medical sciences, tehran-iran.دانشکده دندانپزشکی، دانشگاه علوم پزشکی شهید بهشتی محمدرضا ترحمی mohammad-reza tarahhomi medical school, hamedan university of medical sciences, hamedan-iran.دانشکده پزشکی، دانشگاه علوم پزشکی همدان.

objectives: ectrodactyly-ectodermal dysplasia-clefting syndrome (eec) is a rare syndrome with features of ectrodactyly, ectodermal dysplasia and cleft lip/palate. this study presents an iranian case with classic features and oral complications.   case: we report a 20-year old female with all manifestations of this syndrome. the simultaneous presence of these three malformations is extremely rar...

Journal: :Journal of Medical Genetics 1987

Journal: :Clinical genetics 1972
K Fried

The Ectrodactyly-Ectodermal Dysplasia-Clefting syndrome is also known as the EEC syndrome. The word ectrodactyly is derived from the Greek, and means congenital absence of all or part of a finger or toe. While both hands and both feet are usually involved, exceptions have been noted in that one hand may be normal and, rarely, all extremities are normal. Tear ducts are abnormal in most affected ...

2017
Rafael Fabiano Machado Rosa Samir Abou Ghaouche de Moraes Leonardo Paludo Sulczinski Filipe Augusto da Silva Olga Gaio Milner Silvana Rodrigues Streit Pires Osvaldo Alfonso Pinto Artigalas Rosana Cardoso Manique Rosa Paulo Ricardo Gazzola Zen

OBJECTIVE EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents. CASE DESCRIPTION The patient was the third son of young and healthy parents. ...

Ali Mirshahi, Farzad Hayati Hossein Kazemi Mehrjerdi, Kamran Sardari, Sara Gachpaz

Case Description- A 3-month-old, female mixed breed dog was presented to the Veterinary Teaching Hospital of Ferdowsi University with an obvious deformity in its right forelimb. Clinical Findings- - In clinical examination, there was a separation from elbow joint to the end of digits and a long skin cleft between these separated regions was seen. Radiographic examination revealed a wide space b...

Journal: :Laboratory animals 1986
J M French

This paper describes previously unreported malformations of both fore and hind feet in a liveborn common marmoset. Ectrodactyly of both fore feet and left hind foot and syndactyly of the right hind foot were observed.

2013
Maxence Vieux-Rochas Kamal Bouhali Stefano Mantero Giulia Garaffo Paolo Provero Simonetta Astigiano Ottavia Barbieri Mariano F. Caratozzolo Apollonia Tullo Luisa Guerrini Yvan Lallemand Benoît Robert Giovanni Levi Giorgio R. Merlo

The Dlx and Msx homeodomain transcription factors play important roles in the control of limb development. The combined disruption of Msx1 and Msx2, as well as that of Dlx5 and Dlx6, lead to limb patterning defects with anomalies in digit number and shape. Msx1;Msx2 double mutants are characterized by the loss of derivatives of the anterior limb mesoderm which is not observed in either of the s...

Journal: :Journal of Nepal Paediatric Society 2016

2009
Geetanjali Jindal Veena R. Parmar Vipul Kumar Gupta

Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the m...

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