LEOPARD SYNDROME. FAMILIAL CASES
LEOPARD syndrome is a complex disorder characterized by multiple dysmorphogenetic features. Both syndromes LEOPARD and Noonan are caused by different mutations in the same gene (PTPN11). Authors emphasize diagnosis peculiarities in two related cases with facial dysmorphism. Index case is represented...
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Amaltea Medical Publishing House
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doaj-962bab572f2c4b73a6d4588cd50689922021-09-02T17:11:45ZengAmaltea Medical Publishing HouseRomanian Journal of Pediatrics1454-03982069-61752014-03-01631575910.37897/RJP.2014.1.11LEOPARD SYNDROME. FAMILIAL CASES Sorin Ioan Iurian0Han Brunner1Helger Yntema2Bogdan Mehedintu3Pediatric Clinic Hospital, SibiuDepartament of Metabolic and Genetic Disorders, Radboud University, Nijmegen, The NederlandsDepartament of Metabolic and Genetic Disorders, Radboud University, Nijmegen, The NederlandsEmergency Department, Pediatric Clinic Hospital, SibiuLEOPARD syndrome is a complex disorder characterized by multiple dysmorphogenetic features. Both syndromes LEOPARD and Noonan are caused by different mutations in the same gene (PTPN11). Authors emphasize diagnosis peculiarities in two related cases with facial dysmorphism. Index case is represented by a 10 year-old boy admitted for evaluation because of cephalofacial dysmorphism associated with mental disabilities. Family history: non-consanguineous parents; the father’s case and his sister with face dysmorphism. Clinical exam: short stature, impaired nutritional status, axillary freckles, widespread café-au-lait spots, face dysmorphism, webbed neck, skeletal anomalies and mental retardation. Blood investigations and cardiac ultrasonography: no anomalies. Differential diagnosis includes Noonan syndrome, Greig syndrome, type 1 neurofi bromatosis, Albright syndrome. Regarding patient genetic evaluation: normal karyotype; DNA sequencing revealed mutation in PTPN11 gene suggestive for LEOPARD syndrome. Authors also found same mutation for probant’s father. Conclusions. Authors described two cases with dysmorphic skull, skeletal anomalies, skin pigmentation, mental disabilities and short stature, justifying further genetic evaluation that revealed a very rare disorder. https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2014-Nr.1/EN/RJP_2014_1_EN_Art-11.pdfleopard syndromechild |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Sorin Ioan Iurian Han Brunner Helger Yntema Bogdan Mehedintu |
spellingShingle |
Sorin Ioan Iurian Han Brunner Helger Yntema Bogdan Mehedintu LEOPARD SYNDROME. FAMILIAL CASES Romanian Journal of Pediatrics leopard syndrome child |
author_facet |
Sorin Ioan Iurian Han Brunner Helger Yntema Bogdan Mehedintu |
author_sort |
Sorin Ioan Iurian |
title |
LEOPARD SYNDROME. FAMILIAL CASES |
title_short |
LEOPARD SYNDROME. FAMILIAL CASES |
title_full |
LEOPARD SYNDROME. FAMILIAL CASES |
title_fullStr |
LEOPARD SYNDROME. FAMILIAL CASES |
title_full_unstemmed |
LEOPARD SYNDROME. FAMILIAL CASES |
title_sort |
leopard syndrome. familial cases |
publisher |
Amaltea Medical Publishing House |
series |
Romanian Journal of Pediatrics |
issn |
1454-0398 2069-6175 |
publishDate |
2014-03-01 |
description |
LEOPARD syndrome is a complex disorder characterized by multiple dysmorphogenetic features. Both syndromes LEOPARD and Noonan are caused by different mutations in the same gene (PTPN11). Authors emphasize diagnosis peculiarities in two related cases with facial dysmorphism. Index case is represented by a 10
year-old boy admitted for evaluation because of cephalofacial dysmorphism associated with mental disabilities.
Family history: non-consanguineous parents; the father’s case and his sister with face dysmorphism. Clinical
exam: short stature, impaired nutritional status, axillary freckles, widespread café-au-lait spots, face dysmorphism, webbed neck, skeletal anomalies and mental retardation. Blood investigations and cardiac ultrasonography: no anomalies. Differential diagnosis includes Noonan syndrome, Greig syndrome, type 1 neurofi bromatosis, Albright syndrome. Regarding patient genetic evaluation: normal karyotype; DNA sequencing revealed mutation in PTPN11 gene suggestive for LEOPARD syndrome. Authors also found same mutation for probant’s father.
Conclusions. Authors described two cases with dysmorphic skull, skeletal anomalies, skin pigmentation, mental disabilities and short stature, justifying further genetic evaluation that revealed a very rare disorder. |
topic |
leopard syndrome child |
url |
https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2014-Nr.1/EN/RJP_2014_1_EN_Art-11.pdf |
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1721172415223955456 |