Leopard syndrome historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]
Overview
It was first described by Zeisler and Becker with multiple lentigines, hypertelorism, pectus carinatum (protruding breastbone) and prognathism (protrusion of lower jaw) in 1936.Closing </ref> missing for <ref> tag
In 1966, three familial cases were added.[1] In 1968 another case of mother to two separate children, with different paternity of the two children, was added.[2]
It was believed as late as 2002[3] that Leopard syndrome was related to neurofibromatosis type I (von Recklinghausen syndrome).
Historical Perspective
Zeisler and Becker first described a syndrome with multiple lentigines, hypertelorism, pectus carinatum (protruding breastbone) and prognathism (protrusion of lower jaw) in 1936.[4] Sporadic descriptions were added through the years. In 1962, cardiac abnormalities and short stature were first associated with the condition.[5] In 1966, three familial cases were added, a mother, her son and daughter.[6] Another case of mother to two separate children, with different paternity of the two children, was added in 1968.[7] It was believed as late as 2002[8] that Leopard syndrome was related to neurofibromatosis type I (von Recklinghausen syndrome). In fact, since both ICD9 and ICD10 lack a specific diagnosis code for Leopard syndrome, the diagnosis code for NF1 is still sometimes used for diagnostic purposes, although it has been shown that the gene is not linked to the NF1 locus.[9]
References
- ↑ Walther RJ, Polansky BJ, Grotis IA (1966). "Electrocardiographic abnormalities in a family with generalized lentigo". N. Engl. J. Med. 275 (22): 1220–5. PMID 5921856.
- ↑ Matthews NL (1968). "Lentigo and electrocardiographic changes". N. Engl. J. Med. 278 (14): 780–1. PMID 5638719.
- ↑ National Library of Medicine MeSH: C05.660.207.525
- ↑ Zeisler EP, Becker SW (1936). "Generalized lentigo: its relation to systemic nonelevated nevi". Arch Dermatol Syphilol. 33: 109–125.
- ↑ Moynahan EJ (1962). "Multiple symmetrical moles, with psychic and somatic infantilism and genital hypoplasia: first male case of a new syndrome". Proc Roy Soc Med. 55: 959–960. PMC 1896920
- ↑ Walther RJ, Polansky BJ, Grotis IA (1966). "Electrocardiographic abnormalities in a family with generalized lentigo". N. Engl. J. Med. 275 (22): 1220–5. PMID 5921856.
- ↑ Matthews NL (1968). "Lentigo and electrocardiographic changes". N. Engl. J. Med. 278 (14): 780–1. PMID 5638719.
- ↑ National Library of Medicine MeSH: C05.660.207.525
- ↑ Ahlbom BE, Dahl N, Zetterqvist P, Annerén G (1995). "Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus". Clin. Genet. 48 (2): 85–9. PMID 7586657.