Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality

Williams, P. Gail; Hersh, Joseph H.; Yen, Frank; Margaret, J; Kleinert, Harold E.; Kunz, Jürgen; Kalff-Suske, Martha

doi:10.1111/j.1399-0004.1997.tb02565.x

Cited by 21 publications

(11 citation statements)

References 22 publications

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“…Gorlin syndrome (nevoid basal cell carcinoma syndrome) is characterized by macrocephalus and particularly hypertelorism and polydactyly. Moreover, mutations were found in genes related with PTCH1 and GLI-SHH pathways (6,8,9).…”

Section: Discussionmentioning

confidence: 99%

A Greig Syndrome Case Diagnosed In One Of The Singleton Of Twin Preterm Who Were Obtained By Assisted Reproduction

Sandal¹,

Uraş²,

Erdeve³

et al. 2009

Ankara Üniversitesi Tıp Fakültesi Mecmuası

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Section: Discussionmentioning

confidence: 99%

A Greig Syndrome Case Diagnosed In One Of The Singleton Of Twin Preterm Who Were Obtained By Assisted Reproduction

Sandal¹,

Uraş²,

Erdeve³

et al. 2009

Ankara Üniversitesi Tıp Fakültesi Mecmuası

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“…GCPS patients with mental retardation were the ones who had large deletions of the region on chromosome 7p harboring the GLI3 gene. Mental retardation has been associated with GCPS [22,24,29,31,38], and as mentioned above, GCPS and ACLS have several overlapping features. None of our patients with large deletions had agenesis of the corpus callosum.…”

Section: Discussionmentioning

confidence: 99%

“…Very seldom, postaxial polydactyly is seen in the feet [12]. After the original description by Greig in 1926, several other authors have contributed to the delineation of the characteristic features of this syndrome [13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31].…”

Section: Gli3mentioning

confidence: 99%

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

Debeer¹,

Devriendt²,

Smet³

et al. 2007

Journal of Children's Orthopaedics

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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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“…Mutations shown to cause GCPS include nonsense, missense, and splicing mutations, and translocations, deletions and insertions [6][7][8][9][10][11][12][13][14][15]. The deletions range from a single nucleotide to nearly a megabase in size.…”

Section: Etiologymentioning

confidence: 99%