title: Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.
abstract: Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.
authors.affiliation: 1Pediatric Pathology, Department of Pathology, and.
authors.forename: Deepan
authors.initials: D
authors.lastname: Mathur
authors.forename: Santhosh
authors.initials: S
authors.lastname: Somashekar
authors.forename: Cristina
authors.initials: C
authors.lastname: Navarrete
authors.forename: Maria M
authors.initials: MM
authors.lastname: Rodriguez
mesh_terms: D002916:Chylothorax / Q000151:congenital / Q000473:pathology; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008168:Lung / Q000473:pathology; D008200:Lymphangiectasis / Q000151:congenital / Q000473:pathology; D044148:Lymphatic Abnormalities / Q000473:pathology*; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D014429:Twins, Dizygotic
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
keywords: Noonan syndrome; chylothorax; genomic DNA sequence; lymphatic dysplasia; pulmonary lymphangiectasis
references.citation: Orphanet J Rare Dis. 2007 Jan 14;2:4
references.pmid: 17222357
references.citation: Cell. 1995 Feb 10;80(3):473-83
references.pmid: 7859288
references.citation: Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79
references.pmid: 21396583
references.citation: J Med Genet. 2003 Sep;40(9):704-8
references.pmid: 12960218
references.citation: Trends Biochem Sci. 2003 Jun;28(6):284-93
references.pmid: 12826400
references.citation: Eur J Hum Genet. 2013 Sep;21(9):936-42
references.pmid: 23321623
references.citation: Blood. 2001 Feb 15;97(4):911-4
references.pmid: 11159516
references.citation: J Clin Invest. 1967 Oct;46(10):1643-56
references.pmid: 4168730
references.citation: Am Fam Physician. 2014 Jan 1;89(1):37-43
references.pmid: 24444506
references.citation: Eur J Pediatr. 1986 Sep;145(4):286-92
references.pmid: 3769996
references.citation: Horm Res. 2009 Dec;72 Suppl 2:46-8
references.pmid: 20029237
references.citation: J Med Genet. 1987 Jan;24(1):9-13
references.pmid: 3543368
references.citation: Proc Natl Acad Sci U S A. 2004 Nov 9;101(45):16064-9
references.pmid: 15520383