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Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
Salzano, E; Raible, S E; Kaur, M; Wilkens, A; Sperti, G; Tilton, R K; Bettini, L R; Rocca, A; Cocchi, G; Selicorni, A; Conlin, L K; McEldrew, D; Gupta, R; Thakur, S; Izumi, K; Krantz, I D.
Afiliação
  • Salzano E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Raible SE; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Kaur M; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Wilkens A; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Sperti G; Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
  • Tilton RK; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Bettini LR; Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, Milan, Italy.
  • Rocca A; Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
  • Cocchi G; Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
  • Selicorni A; UOC Pediatria, ASST Lariana, Como, Italy.
  • Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • McEldrew D; Department of Pathology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Gupta R; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Thakur S; Department of Fetal Medicine, Maharaja Agrasen Hospital, Delhi & Sonepat Genetic and Fetal Medicine Centre, Sonepat, Haryana.
  • Izumi K; Department of Genetic & Fetal Medicine, Fortis Hospital, Delhi-NCR & Apollo Hospital, Delhi, India.
  • Krantz ID; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Am J Med Genet A ; 176(12): 2575-2586, 2018 12.
Article em En | MEDLINE | ID: mdl-30289601
Pallister-Killian syndrome (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of neurodevelopmental delay and intellectual disability, typical craniofacial findings, skin pigmentation anomalies and multiple congenital malformations. The wide phenotypic spectrum of PKS in conjunction with the mosaic distribution of the i(12p) makes PKS an underdiagnosed disorder. Recognition of prenatal findings that should raise a suspicion of PKS is complicated by the fragmentation of data currently available in the literature and challenges in diagnosing a mosaic diagnosis on prenatal testing. Ultrasound anomalies, especially congenital diaphragmatic hernia, congenital heart defects, and rhizomelic limb shortening, have been related to PKS, but they are singularly not specific and are not present in all affected fetuses. We have combined prenatal data from 86 previously published reports and from our cohort of 114 PKS probands (retrospectively reviewed). Summarizing this data we have defined a prenatal growth profile and identified markers of perinatal outcome which collectively provide guidelines for early recognition of the distinctive prenatal profile and consideration of a diagnosis of PKS as well as for management and genetic counseling.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Transtornos Cromossômicos Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Systematic_reviews Limite: Female / Humans / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Transtornos Cromossômicos Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Systematic_reviews Limite: Female / Humans / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos