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- W3164312243 abstract "Swanson SL, Santen RJ, Smith DW. Multiple lentigines syndrome: new findings of hypogonadotrophism, hyposmia, and unilateral renal agenesis. J Pediatr 1951;48:1037-9. Multiple lentigines syndrome, currently known as Noonan syndrome with multiple lentigines (NSML) and also referred to as LEOPARD syndrome, was first described by Zeisler and Becker in 1936.1Zeisler E. Becker S. Generalized lentigo: its relation to systemic nonelevated nevi.Arch Dermatol Syphilol. 1936; 33: 109-125Crossref Scopus (37) Google Scholar Subsequently, patients with Lentigines, Electrocardiographic defects, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retardation of growth, and sensorineural Deafness were described, leading to the acronym “LEOPARD” syndrome.2Walther R.J. Polansky B.J. Grotis I.A. Electrocardiographic abnormalities in a family with generalized lentigo.N Engl J Med. 1966; 275: 1220-1225Crossref PubMed Scopus (46) Google Scholar, 3Smith R.F. Pulicicchio L.U. Holmes A.V. Generalized lentigo: electrocardiographic abnormalities, conduction disorders and arrhythmias in three cases.Am J Cardiol. 1970; 25: 501-506Abstract Full Text PDF PubMed Scopus (38) Google Scholar, 4Gorlin R.J. Anderson R.C. Moller J.H. The Leopard (multiple lentigines) syndrome revisited.Birth Defects Orig Artic Ser. 1971; 07: 110-115PubMed Google Scholar Fifty years ago in this journal, Swanson et al published an expansion of the phenotype to include hypogonadotrophism, hyposmia, and unilateral renal aplasia. It is possible that their patient had 2 different disorders, as other cases of hyposmia associated with NSML have not been reported since this original report. Since their article 50 years ago, many advances have been made in the genetics and care of individuals with NSML, including the underlying genetics, clinical care guidelines, and the use of molecularly targeted therapy.5Adam M.P. Ardinger H.H. Pagon R.A. Wallace S.E. Bean L.J. Mirzaa G. et al.Noonan syndrome with multiple lentigines. University of Washington, Seattle, Seattle (WA)1993Google Scholar, 6Hahn A. Lauriol J. Thul J. Behnke-Hall K. Logeswaran T. Schänzer A. et al.Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.Am J Med Genet A. 2015; 167: 744-751Crossref Scopus (37) Google Scholar, 7Romano A.A. Allanson J.E. Dahlgren J. Gelb B.D. Hall B. Pierpont M.E. et al.Noonan syndrome: clinical features, diagnosis, and management guidelines.Pediatrics. 2010; 126: 746-759Crossref PubMed Scopus (341) Google Scholar The clinical characterization is similar to Dr Smith's simple and elegant figure. Dr David W. Smith (1926-1981), the senior author on this study, is an icon in medical genetics and the founding father of dysmorphology in the US. In an era before molecular diagnostics, Dr Smith demonstrated the value of careful physical examinations and recognizing patterns of malformations that could be identified in unrelated individuals and classified into distinct syndromes. This led the way to the identification of cohorts of patients that allowed for understanding the natural history of these diagnoses, improved counseling and management, and eventually to the identification of the genetic cause. Dr Smith was a passionate educator and mentor, and his classic text “Smith's Recognizable Patterns of Human Malformations,” now in its eighth edition, is an essential text. Dr Smith's early phenotypic characterization of NSML provided the essential background for diagnosis and treatment of this syndrome. We wonder if Dr Smith could have dreamed of the insights leading to molecularly targeted therapies for patients with NSML. Dr Smith's legacy to these syndromes will be honored with the RASopathy theme at the upcoming David W. Smith Workshop on Malformations and Morphogenesis in the fall of 2021." @default.
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