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Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation.
Klin Padiatr. 2009 Mar-Apr; 221(2):97-9.KP

Abstract

Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic syndrome of multiple congenital anomalies attributable to the presence of a de novo mosaic supernumerary isochromosome 12p [i(12p)]. The syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia, and coarsening of the facial features), and developmental delay. The developmental phenotype of PKS is quite variable, but most are considered to fall into the profound range of developmental retardation. We report on two individuals with classical features of PKS. Notably, in one child the neuropsychological development was significantly more favourable than commonly reported in the literature. This illustrates the loose correlation between geno- and phenotype in PKS.

Authors+Show Affiliations

Klinik für Allgemeine Pädiatrie und Neonatologie, Universität des Saarlandes, Homburg/Saar.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19067289

Citation

Shamdeen, A, et al. "Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation." Klinische Padiatrie, vol. 221, no. 2, 2009, pp. 97-9.
Shamdeen A, Meyer S, Gottschling S, et al. Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation. Klin Padiatr. 2009;221(2):97-9.
Shamdeen, A., Meyer, S., Gottschling, S., Oehl-Jaschkowitz, B., Gortner, L., & Shamdeen, M. G. (2009). Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation. Klinische Padiatrie, 221(2), 97-9. https://doi.org/10.1055/s-0028-1086019
Shamdeen A, et al. Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation. Klin Padiatr. 2009 Mar-Apr;221(2):97-9. PubMed PMID: 19067289.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation. AU - Shamdeen,A, AU - Meyer,S, AU - Gottschling,S, AU - Oehl-Jaschkowitz,B, AU - Gortner,L, AU - Shamdeen,M G, Y1 - 2008/12/09/ PY - 2008/12/11/pubmed PY - 2009/5/12/medline PY - 2008/12/11/entrez SP - 97 EP - 9 JF - Klinische Padiatrie JO - Klin Padiatr VL - 221 IS - 2 N2 - Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic syndrome of multiple congenital anomalies attributable to the presence of a de novo mosaic supernumerary isochromosome 12p [i(12p)]. The syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia, and coarsening of the facial features), and developmental delay. The developmental phenotype of PKS is quite variable, but most are considered to fall into the profound range of developmental retardation. We report on two individuals with classical features of PKS. Notably, in one child the neuropsychological development was significantly more favourable than commonly reported in the literature. This illustrates the loose correlation between geno- and phenotype in PKS. SN - 0300-8630 UR - https://www.unboundmedicine.com/medline/citation/19067289/Pallister_Killian_Syndrome__PKS__as_a_Cause_of_Mental_Retardation_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-0028-1086019 DB - PRIME DP - Unbound Medicine ER -