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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Amaltea Medical Publishing House
2014-03-01
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Series: | Romanian Journal of Pediatrics |
Subjects: | |
Online Access: | https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2014-Nr.1/EN/RJP_2014_1_EN_Art-11.pdf |
Summary: | 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. |
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ISSN: | 1454-0398 2069-6175 |