Acromelic Frontonasal "Dysplasia": Further Delineation of a Subtype with Brain Malformation and Polydactyly (Toriello Syndrome)

Verloes, Alain; Gillerot, Y.; Walczak, E.; Van Maldergem, Lionel; Koulischer, Lucien

doi:10.1002/ajmg.1320420209

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Acromelic Frontonasal "Dysplasia": Further Delineation of a Subtype with Brain Malformation and Polydactyly (Toriello Syndrome)

Verloes, Alain; Gillerot, Y.; Walczak, E. et al.

1992 • In American Journal of Medical Genetics, 42 (2), p. 180-3

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https://hdl.handle.net/2268/84796

DOI
10.1002/ajmg.1320420209

PubMed
1733166

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Abstract :

[en] We report on a stillborn boy with frontonasal malformation (Sedano-Jirasek type D-DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. Most cases are sporadic.

Disciplines :

Genetics & genetic processes

Author, co-author :

Verloes, Alain ; Université de Liège - ULiège > Génétique générale et humaine

Gillerot, Y.

Walczak, E.

Van Maldergem, Lionel ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

Koulischer, Lucien ; Université de Liège - ULiège > Relations académiques et scientifiques (Médecine)

Language :

English

Title :

Acromelic Frontonasal "Dysplasia": Further Delineation of a Subtype with Brain Malformation and Polydactyly (Toriello Syndrome)

Publication date :

15 January 1992

Journal title :

American Journal of Medical Genetics

ISSN :

0148-7299

Publisher :

Wiley-Liss Inc, United States - New Jersey

Volume :

Issue :

Pages :

180-3

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 14 February 2011

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