Craniofacial and cutaneous findings in Noonan, Costello and LEOPARD syndromes
نویسندگان
چکیده
منابع مشابه
Craniofacial and dental development in Costello syndrome.
Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upst...
متن کاملCorrelation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
N oonan syndrome (MIM 163950), an autosomal dominant disorder with an estimated prevalence of 1/1000– 2500 at birth, is characterised by short stature, facial anomalies, pterygium colli, and congenital heart disease. 2 Although pulmonary valve stenosis with dysplastic leaflets, hypertrophic cardiomyopathy, and atrial septal defects (ASD) are the most common congenital heart defects in Noonan sy...
متن کاملA review of craniofacial and dental findings of the RASopathies.
OBJECTIVES The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), ne...
متن کاملTegumentary manifestations of Noonan and Noonan-related syndromes
OBJECTIVES Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort of 41 patients with Noonan or Noonan-related syndromes and to detail certain aspects of the molecular mechanisms underlying ectodermal involvement. ...
متن کاملCraniofacial Abnormalities and Syndromes
Symmetr y and propor t ion plays an impor tan t role in cosmeti c par t of face and golden ra tio depicts a st rong cor rela tion between mathematical propor t ion of face and appearance. Th is can be a ffected by mult iple fa ctor s including syndromes which con tr ibute a sign ifican t role in cran iofacial abnormali ties. Th is paper in tends to br ing out the craniofacial man ifesta t ions ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Advances in Dermatology and Allergology
سال: 2018
ISSN: 1642-395X
DOI: 10.5114/pdia.2017.70330