期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 158A, 期 12, 页码 3002-3017出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.35722
关键词
Pallister-Killian syndrome; PKS; Teschler-Nicola-Killian syndrome; tetrasomy 12p; isochromosome 12
资金
- Children's Hospital of Philadelphia IDF funds
- PKS Kids family support group
PallisterKillian syndrome is a rare, multi-system developmental diagnosis typically caused by tetrasomy of chromosome 12p that exhibits tissue-limited mosaicism. The spectrum of clinical manifestations in PallisterKillian syndrome is wide and includes craniofacial anomalies, clefts, ophthalmologic, audiologic, cardiac, musculoskeletal, diaphragmatic, gastrointestinal, genitourinary, and cutaneous anomalies in association with intellectual disability and seizures. Growth parameters are often normal to elevated at birth with deceleration of growth postnatally. No formal estimate of the prevalence of PallisterKillian syndrome has been made. Here, we report the clinical findings in 59 individuals with PallisterKillian syndrome who were ascertained at PallisterKillian syndrome Foundation family meetings held in the summers of 2006, 2008, 2009, and 2010. In addition, the clinical findings of 152 cases reported in the medical literature were reviewed and compared to the cohort examined here. Several novel clinical characteristics were identified through detailed dysmorphology examinations of this cohort and reassertion of a mild developmental variant is described. This report expands the clinical manifestations of PallisterKillian syndrome and highlights the variable expressivity of this diagnosis with important implications for diagnosis and counseling. (C) 2012 Wiley Periodicals, Inc.
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