LEOPARD Syndrome (Multiple Lentigines; Lentiginosis Profusa
Standard
LEOPARD Syndrome (Multiple Lentigines; Lentiginosis Profusa. / Hagel, Christian; Panteliadis, Christos.
Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach. Hrsg. / Christos Panteliadis; Ramsis Benjamin; Christian Hagel. 3. Aufl. Zürich : Springer International Publishing, 2022. S. 221-226.Publikationen: SCORING: Beitrag in Buch/Sammelwerk › Kapitel › Forschung
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - CHAP
T1 - LEOPARD Syndrome (Multiple Lentigines; Lentiginosis Profusa
AU - Hagel, Christian
AU - Panteliadis, Christos
PY - 2022/2/4
Y1 - 2022/2/4
N2 - LEOPARD syndrome (LS, OMIM 151100) is a rare multiple-anomaly condition, which in most cases follows an autosomal dominant inheritance with variable penetrance and expression. The name is an acronym for lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormalities of the genitalia, retardation of growth, and sensorineural deafness coined by Gorlin and co-workers. About 200 cases of LS have been reported since the first description in the 1960s, but the exact prevalence is still unclear. The pathogenesis, clinical symptoms, diagnosis criteria, and recommendations are reviewed in this chapter.
AB - LEOPARD syndrome (LS, OMIM 151100) is a rare multiple-anomaly condition, which in most cases follows an autosomal dominant inheritance with variable penetrance and expression. The name is an acronym for lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormalities of the genitalia, retardation of growth, and sensorineural deafness coined by Gorlin and co-workers. About 200 cases of LS have been reported since the first description in the 1960s, but the exact prevalence is still unclear. The pathogenesis, clinical symptoms, diagnosis criteria, and recommendations are reviewed in this chapter.
M3 - Chapter
SN - 978-3-030-87892-4
SP - 221
EP - 226
BT - Neurocutaneous Disorders
A2 - Panteliadis, Christos
A2 - Benjamin, Ramsis
A2 - Hagel, Christian
PB - Springer International Publishing
CY - Zürich
ER -
