Results 131 to 140 of about 3,804 (178)
Schizencephaly in LEOPARD Syndrome
Pediatric Neurology, 2009 We report on a 2-year-old boy with facial dysmorphism, multiple lentigines, and hypertrophic cardiomyopathy. Mutation analyses of the patient and his mother revealed a Y279G mutation in exon 7 of the PTPN11 gene. The presence of LEOPARD syndrome was confirmed by a genetic study and clinical phenotypes.
Jao-Shwann, Liang +4 more
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Ugeskrift for laeger, 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.
Alexander K. C. Leung +126 more
core +5 more sources
Journal of Craniofacial Surgery, 2014 This article reports a case of a boy with LEOPARD syndrome with unusual mandibular osteolytic osteoclastic-like lesions and eruption disorder. The patient was referred to our department for bilateral facial swelling: systemic examinations, diagnosis, and dental and maxillofacial care are reported.
Aboh, Ikenna Valentine +7 more
openaire +6 more sources
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Cardiovascular Journal Of Africa, 2012
LEOPARD syndrome (LS) is a rare hereditary disorder, characterised mainly by skin, facial and cardiac abnormalities. We report on the case of a six-year-old Djiboutian with typical features of LS. Multiple cardiovascular problems are described, including pulmonary infundibular, valvular and supra-valvular stenosis.
P L, Massoure +3 more
+5 more sources
LEOPARD syndrome (LS) is a rare hereditary disorder, characterised mainly by skin, facial and cardiac abnormalities. We report on the case of a six-year-old Djiboutian with typical features of LS. Multiple cardiovascular problems are described, including pulmonary infundibular, valvular and supra-valvular stenosis.
P L, Massoure +3 more
+5 more sources
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11
Journal of Human Genetics, 2005 LEOPARD syndrome (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) is an autosomal dominant condition.
Kamini Kâlidâs +2 more
exaly +2 more sources
An Intriguing Case of LEOPARD Syndrome
Pediatric Dermatology, 1998Abstract: We report a 9‐year‐old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two caf#eA au lait spots, and one neurofibroma. The diagnosis of LEOPARD syndrome has been made on clinical grounds, whereas the ichthyosis and neurofibroma have been histologically confirmed.
Schepis C. +4 more
openaire +3 more sources
Nihon rinsho. Japanese journal of clinical medicine, 2007 The LEOPARD syndrome is a dysmorphogenetic and multisystem cardio-cutaneous syndrome. A 32-year-old female is presented with multiple lentigines, hypertrophic obstructive cardiomyopathia (HOCM), tight bundle branch block, mitral valve stenosis and ...
Guenel, Serife +5 more
openaire +3 more sources