Leopard syndrome (LPRD) is a rare autosomal dominant disorder first described by Zeisler and Becker in 1936 in a 24-year-old woman (Zeisler and Becker 1936). Years later, Gorlin et al. coined the acronym LEOPARD, which stands for the major features of this syndrome: multiple lentigines, electrocardiographic (ECG) abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness (Gorlin et al. 1969). However, patients with the full clinical spectrum are uncommon, and most cases present with only a few of these features. Many cases are under or misdiagnosed due to the absence of lentiginosis or mild presentation, making the true prevalence unknown. Also, the syndrome appears to be rare, with about 300 cases described to date, showing a slight male predominance. Symptoms may start to appear in the newborn period or develop during childhood (Voron et al. 1976; Sarkozy et al. 2008).

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Leopard Syndrome (LPRD): Types 1–3

  • Asma Mousavi,
  • Sepideh Razi

摘要

Leopard syndrome (LPRD) is a rare autosomal dominant disorder first described by Zeisler and Becker in 1936 in a 24-year-old woman (Zeisler and Becker 1936). Years later, Gorlin et al. coined the acronym LEOPARD, which stands for the major features of this syndrome: multiple lentigines, electrocardiographic (ECG) abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness (Gorlin et al. 1969). However, patients with the full clinical spectrum are uncommon, and most cases present with only a few of these features. Many cases are under or misdiagnosed due to the absence of lentiginosis or mild presentation, making the true prevalence unknown. Also, the syndrome appears to be rare, with about 300 cases described to date, showing a slight male predominance. Symptoms may start to appear in the newborn period or develop during childhood (Voron et al. 1976; Sarkozy et al. 2008).