title: Pierpont syndrome: a collaborative study.
abstract: Pierpont syndrome is a multiple congenital anomaly syndrome with learning disability first described in 1998. There are only three patients with Pierpont syndrome who have previously been published in the literature. Details of a series of patients with features of this condition were therefore obtained retrospectively to better characterize its key features. These patients were noted to have distinctive shared facial characteristics, in addition to plantar fat pads and other limb abnormalities. Further individuals with equally striking hand and foot findings were identified whose facies were less characteristic, and hence we considered them unlikely to be affected with the same condition. Despite several patients with possible Pierpont syndrome having had high-resolution array CGH or SNP array, the etiology of this phenotype remains unknown. Whilst it is as yet unclear whether it is a single entity, there appears to be a group of patients in whom Pierpont syndrome may be a recognizable condition, with typical facies, particularly when smiling, and characteristic hand and foot findings.
authors.affiliation: Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
authors.forename: Emma M M Burkitt
authors.initials: EM
authors.lastname: Wright
authors.forename: Mohnish
authors.initials: M
authors.lastname: Suri
authors.forename: Susan M
authors.initials: SM
authors.lastname: White
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
authors.forename: Anneke T
authors.initials: AT
authors.lastname: Vulto-van Silfhout
authors.forename: Fiona
authors.initials: F
authors.lastname: Stewart
authors.forename: Shane
authors.initials: S
authors.lastname: McKee
authors.forename: Sahar
authors.initials: S
authors.lastname: Mansour
authors.forename: Fiona C
authors.initials: FC
authors.lastname: Connell
authors.forename: Maya
authors.initials: M
authors.lastname: Chopra
authors.forename: Edwin P
authors.initials: EP
authors.lastname: Kirk
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
authors.forename: Willie
authors.initials: W
authors.lastname: Reardon
authors.forename: Han
authors.initials: H
authors.lastname: Brunner
authors.forename: Dian
authors.initials: D
authors.lastname: Donnai
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics; D002658:Developmental Disabilities; D005145:Face / Q000002:abnormalities; D019066:Facies; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D059785:Karyotype; D007859:Learning Disabilities / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012189:Retrospective Studies; D013577:Syndrome