Biomaterial Database

[Noonan's syndrome with cardiac malformation]. 1984

D Z Yang

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009634	Noonan Syndrome	A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.	Male Turner Syndrome,Turner Syndrome, Male,Familial Turner Syndrome,Female Pseudo-Turner Syndrome,Noonan Syndrome 1,Noonan-Ehmke Syndrome,Pseudo-Ullrich-Turner Syndrome,Turner Phenotype with Normal Karyotype,Turner's Phenotype, Karyotype Normal,Turner's Syndrome, Male,Turner-Like Syndrome,Ullrich-Noonan Syndrome,Female Pseudo Turner Syndrome,Male Turner's Syndrome,Noonan Ehmke Syndrome,Pseudo Ullrich Turner Syndrome,Pseudo-Turner Syndrome, Female,Turner Like Syndrome,Turner Syndrome, Familial,Ullrich Noonan Syndrome
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260	Female		Females
D006330	Heart Defects, Congenital	Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.	Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

Related Publications

D Z Yang

Cerebral arteriovenous malformation in Noonan's syndrome.

January 1992, Postgraduate medical journal,

D Z Yang

Cardiac findings in 31 patients with Noonan's syndrome.

November 2000, Arquivos brasileiros de cardiologia,

D Z Yang

Noonan's syndrome and Ebstein's malformation of the tricuspid valve.

October 1968, American journal of diseases of children (1960),

D Z Yang

Chiari (type 1) malformation and syringomyelia in a patient with Noonan's syndrome.

August 1982, Journal of neurology, neurosurgery, and psychiatry,

D Z Yang

A case of Noonan's syndrome with numerous cardiac abnormalities.

January 1998, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists,

D Z Yang

Chiari I malformation and Noonan's syndrome: Shared manifestations of RASopathy.

January 2021, Journal of clinical images and medical case reports,

D Z Yang

Noonan's syndrome with syringomyelia.

March 1986, The Japanese journal of psychiatry and neurology,

D Z Yang

[Noonan's syndrome].

March 1983, Meditsinskaia sestra,

D Z Yang

[Noonan's syndrome].

March 1969, Pediatrie,