Pierpont syndrome: A collaborative study

American Journal of Medical Genetics, Part A

Volumn 155, Issue 9, 2011, Pages 2203-2211

  Wright, Emma M M Burkitt ^a   Suri, Mohnish ^b   White, Susan M ^c,d   de Leeuw, Nicole ^e   Silfhout, Anneke T Vulto van ^e   Stewart, Fiona ^f   Mckee, Shane ^f   Mansour, Sahar ^g   Connell, Fiona C ^h   Chopra, Maya ⁱ   Kirk, Edwin P ⁱ   Devriendt, Koen ^j   Reardon, Willie ^k   Brunner, Han ^d   Donnai, Dian ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f BELFAST CITY HOSPITAL   (United Kingdom)

^g ST GEORGE S HOSPITAL   (United Kingdom)

^h GUY S HOSPITAL   (United Kingdom)

ⁱ SYDNEY CHILDREN'S HOSPITAL   (Australia)

^j UNIVERSITY OF LEUVEN   (Belgium)

^k OUR LADY S CHILDREN S HOSPITAL   (Ireland)

more..

Author keywords

Fetal digital pads; Learning disability; Pierpont syndrome; Plantar fat pads

Indexed keywords

ARTICLE; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FEMALE; FOOT MALFORMATION; GENETIC DISORDER; GENOME ANALYSIS; HUMAN; KARYOTYPING; LEARNING DISORDER; LEG MALFORMATION; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; PHENOTYPE; PIERPONT SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FACE; FACIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; KARYOTYPE; LEARNING DISORDERS; MALE; MIDDLE AGED; PHENOTYPE; RETROSPECTIVE STUDIES; SYNDROME;

EID: 81155159634     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34147     Document Type: Article

References (8)

1. Adam MP, Hudgins L. 2005. Kabuki syndrome: A review. Clin Genet 67: 209-219.
2. Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. 2005. Germline mutations in RAS proto-oncogene cause Costello syndrome. Nat Genet 38: 1038-1040.
3. Burkitt Wright EMM, Kerr BA. 2010. RAS-MAPK pathway disorders: Important causes of congenital heart disease, feeding difficulties, developmental delay and short stature. Arch Dis Child 95: 724-730.
4. McBrien J, Crolla JA, Huang S, Kelleher J, Gleeson J, Lynch SA. 2008. Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion. Am J Med Genet Part A 146A: 1587-1592.
5. Nannya Y, Sanada M, Nakasaki K, Hosoya N, Wang L, Hangaishi A, Kurokawa M, Chiba S, Bailey DK, Kennedy GC, Ogawa S. 2005. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 65: 6071-6079.
6. Oudesluijs GG, Hordijk R, Boon M, Sijens PE, Hennekam RC. 2005. Plantar lipomatosis, unusual facies, and developmental delay: Confirmation of Pierpont syndrome. Am J Med Genet Part A 137A: 77-80.
7. Pierpont ME, Stewart FJ, Gorlin RJ. 1998. Plantar lipomatosis, unusual facial phenotype and developmental delay: A new MCA/MR syndrome. Am J Med Genet 75: 18-21.
8. Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockely AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W. 1995. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9: 165-172.