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A Novel PTPN11 mutation in LEOPARD syndrome
Human Mutation, 2003 PTPN11 gene mutations are common to both patients with Noonan (NS) and LEOPARD syndrome (LS). So far only two recurrent mutations have been identified in LS patients by different research groups, i.e., Tyr279Cys and Thr468Met.
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Ugeskrift for laeger, 1989
A man aged 32 years was referred to a dermatological department for alopecia areata. In addition, the patient had multiple lentigines which, together with other abnormalities, suggested the leopard syndrome. Alopecia areata does not appear to have been described previously in this syndrome.
M, Kristensen, K, Thestrup-Pedersen
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A man aged 32 years was referred to a dermatological department for alopecia areata. In addition, the patient had multiple lentigines which, together with other abnormalities, suggested the leopard syndrome. Alopecia areata does not appear to have been described previously in this syndrome.
M, Kristensen, K, Thestrup-Pedersen
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Zeitschrift fur Hautkrankheiten, 1979
Three cases of LEOPARD-syndrome are presented. A review of literature is given. Among the symptoms of the syndrome lentigines, ECG-abnormalities, pulmonal-stenosis, retardation of growth and deafness show the strongest penetrance and are most constantly found.
H, Butenschön, G, Burg, M, Lentze
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Three cases of LEOPARD-syndrome are presented. A review of literature is given. Among the symptoms of the syndrome lentigines, ECG-abnormalities, pulmonal-stenosis, retardation of growth and deafness show the strongest penetrance and are most constantly found.
H, Butenschön, G, Burg, M, Lentze
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Anaesthetic implications of LEOPARD syndrome
Pediatric Anesthesia, 2004SummaryLEOPARD syndrome is a neuroectodermal disorder presumed to result from an abnormality in neural crest cells. The acronym ‘LEOPARD’ is derived from the clinical features which include multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retarded growth, and deafness.
Javier, Torres +2 more
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Gerstmann tetrad in Leopard syndrome
Pediatric Neurology, 1989We report a 12-year-old boy with multiple lentigines (Leopard) syndrome who was evaluated for learning difficulties and Gerstmann tetrad syndrome (i.e., dyscalculia, left-right disorientation, finger agnosia, and dysgraphia). Cranial computed tomography revealed left ventriculomegaly, more pronounced in the occipital horn suggesting mild atrophy of the
B Z, Garty, Y, Waisman, R, Weitz
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A Family Study of the Leopard Syndrome
Archives of Pediatrics & Adolescent Medicine, 1971In a family consisting of a mother and four children, three of the children showed the findings of the recently delineated leopard syndrome.
A, Sommer +3 more
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Cardiac Abnormalities in LEOPARD Syndrome
Revista Española de Cardiología (English Edition), 2011El sindrome de LEOPARD es un complejo de malformaciones geneticas con herencia autosomica dominante entre las que se incluyen: lentiginosis, alteraciones de la conduccion, evidenciadas en el electrocardiograma, hipertelorismo ocular, estenosis valvular pulmonar, anomalias genitales, retraso del crecimiento y sordera neurosensorial.
Daniel, García-Fuertes +2 more
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Familial occurrence of the LEOPARD syndrome
International Journal of Dermatology, 1998Case 1 A 10‐year‐old boy was admitted to the Neurology Department at the Child's Health Center in Warsaw, Poland, for a diagnosis of mental retardation. Since infancy, small, dark brown, irregularly shaped macules, varying in size from pinpoint to 5 mm in diameter, had been observed on the face, the sclerae, and the neck (Fig. 1).He was born full‐term
S, Jóźwiak +3 more
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Leopard Syndrome: A Tropical Rarity
The Journal of Dermatology, 1998AbstractThis is a case report of a classical presentation of the Leopard syndrome from the Indian subcontinent. The male patient had progressively increasing generalised multiple lentiginosis, ocular hypertelorism, pulmonary stenosis, short stature, cryptorchidism, and pectus excavatum.
P, Gupta +5 more
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Ugeskrift for Læger, 2009
We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD syndrome. We discuss the clinical characteristics of LS,
Hansen, Lars Kjaersgård +3 more
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We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD syndrome. We discuss the clinical characteristics of LS,
Hansen, Lars Kjaersgård +3 more
openaire +2 more sources