Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.
نویسندگان
چکیده
منابع مشابه
Transcriptional Hallmarks of Noonan Syndrome and Noonan-Like Syndrome with Loose Anagen Hair
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is genetically heterogeneous, being caused by germline mutations affecting various genes implicated in the RAS signaling network. This network transduces extracellular signals into intracellular biochemical and transcriptional responses controlling cell proliferation, differentiation, met...
متن کاملPoor prenatal detection rate of cardiac anomalies in Noonan syndrome.
BACKGROUND The wide variation and nonspecific nature of many of the associated ultrasonographic findings complicate prenatal diagnosis of Noonan syndrome. The aim of the present study was to define the rate of prenatal diagnosis of heart malformations in cases diagnosed postnatally with Noonan syndrome. METHODS English-language literature review of 29 cases of Noonan syndrome examined prenata...
متن کاملRadial, renal and craniofacial anomalies: Baller-Gerold syndrome
The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the d...
متن کاملChapter 16 : Craniofacial anomalies
The term craniofacial anomalies literally encompasses all congenital deformities of the cranium and face. More specifically, however, the term has come to imply congenital deformities of the head that interfere with physical and mental well-being (Marsh and Vannier, 1985). There are practically no epidemiological studies of craniofacial malformations as such. Myrianthopoulos (1982) reviewed dat...
متن کاملNoonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
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: Journal of Medical Genetics
سال: 1989
ISSN: 1468-6244
DOI: 10.1136/jmg.26.7.470