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01.07.2007 | Original Clinical Article

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly

verfasst von: Philippe Debeer, Koen Devriendt, Luc De Smet, Thomy deRavel, Antonio Gonzalez-Meneses, Karl-Heinz Grzeschik, Jean-Pierre Fryns

Erschienen in: Journal of Children's Orthopaedics | Ausgabe 2/2007

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Abstract

Purpose

Greig cephalopolysyndactyly (GCPS) (OMIM 175700), a rare autosomal dominant disorder, is characterized by a distinct combination of craniofacial, hand and foot malformations. The hand and foot malformations often require orthopedic assessment and treatment. The disorder is caused by point mutations or deletions in the GLI3 gene, located on chromosome 7p14.3. Herewith, we review the hand and foot malformations in a cohort of 13 patients referred for genetic testing.

Methods

We reviewed the medical files of 13 patients with GCPS seen at the Center for Human Genetics in Leuven between 2003 and 2005. Clinical, molecular and radiological findings, when available, were recorded.

Results

We identified six different point mutations in the GLI3 gene, two microdeletions and three larger chromosomal deletions. In the hands, preaxial polydactyly was never observed, but the malformations included postaxial polydactyly, broad thumbs, clinodactyly of the thumbs and various degrees of syndactyly. In the feet the spectrum of malformations included preaxial polydactyly, postaxial polydactyly, different degrees of syndactyly and broad halluces. Syndactyly of the toes and hallux abnormalities were present in all patients. Most frequently, syndactyly was present between toes 1–2–3. The broadening of the hallux was either due to a complete or partial duplication of the first toe or to broadening of the distal phalanx. Mental retardation was found in three cases and was associated with a large chromosomal deletion of the GLI3 region.

Conclusion

We found the classic hand and foot malformations associated with GCPS in our cohort of patients. Patients with a large chromosomal deletion had mental retardation, but no structural brain anomalies were found.

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Titel: The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly
verfasst von: Philippe Debeer
Koen Devriendt
Luc De Smet
Thomy deRavel
Antonio Gonzalez-Meneses
Karl-Heinz Grzeschik
Jean-Pierre Fryns
Publikationsdatum: 01.07.2007
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Children's Orthopaedics / Ausgabe 2/2007
Print ISSN: 1863-2521
Elektronische ISSN: 1863-2548
DOI: https://doi.org/10.1007/s11832-007-0022-8

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The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly