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 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.LEOPARD Syndrome: An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.Protein Tyrosine Phosphatase, Non-Receptor Type 11: A subtype of non-receptor protein tyrosine phosphatases that contain two SRC HOMOLOGY DOMAINS. Mutations in the gene for protein tyrosine phosphatase, non-receptor type 11 are associated with NOONAN SYNDROME.SOS1 Protein: A mammalian homolog of the DROSOPHILA SON OF SEVENLESS PROTEIN. It is a guanine nucleotide exchange factor for RAS PROTEINS.Syndrome: A characteristic symptom complex.Costello Syndrome: Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).Facies: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)Loose Anagen Hair Syndrome: Benign childhood alopecia that improves spontaneously with aging. It is characterized by anagen hairs (misshapen hair bulbs and absent inner and outer root sheaths), thin, and sparse hairs that pulls out easily.Pulmonary Valve Stenosis: The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.Eyebrows: Curved rows of HAIR located on the upper edges of the eye sockets.Abnormalities, MultipleFailure to Thrive: A condition of substandard growth or diminished capacity to maintain normal function.Protein Tyrosine Phosphatases: An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis.Cherubism: A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination.Skin Abnormalities: Congenital structural abnormalities of the skin.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Ectodermal Dysplasia: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.Sexual Development: The processes of anatomical and physiological changes related to sexual or reproductive functions during the life span of a human or an animal, from FERTILIZATION to DEATH. These include SEX DETERMINATION PROCESSES; SEX DIFFERENTIATION; SEXUAL MATURATION; and changes during AGING.Bezoars: Concretions of swallowed hair, fruit or vegetable fibers, or similar substances found in the alimentary canal.Genes, Neurofibromatosis 1: Tumor suppressor genes located on the long arm of human chromosome 17 in the region 17q11.2. Mutation of these genes is thought to cause NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome.Heart Defects, Congenital: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.Leukemia, Myelomonocytic, Juvenile: A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder.Germ-Line Mutation: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Diagnostic Techniques, Endocrine: Methods and procedures for the diagnosis of diseases or dysfunction of the endocrine glands or demonstration of their physiological processes.ras Proteins: Small, monomeric GTP-binding proteins encoded by ras genes (GENES, RAS). The protooncogene-derived protein, PROTO-ONCOGENE PROTEIN P21(RAS), plays a role in normal cellular growth, differentiation and development. The oncogene-derived protein (ONCOGENE PROTEIN P21(RAS)) can play a role in aberrant cellular regulation during neoplastic cell transformation (CELL TRANSFORMATION, NEOPLASTIC). This enzyme was formerly listed as EC 3.6.1.47.Neurofibromatosis 1: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).Cardiomyopathy, Hypertrophic: A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).Intracellular Signaling Peptides and Proteins: Proteins and peptides that are involved in SIGNAL TRANSDUCTION within the cell. Included here are peptides and proteins that regulate the activity of TRANSCRIPTION FACTORS and cellular processes in response to signals from CELL SURFACE RECEPTORS. Intracellular signaling peptide and proteins may be part of an enzymatic signaling cascade or act through binding to and modifying the action of other signaling factors.

*  DMOZ - Health: Conditions and Diseases: Genetic Disorders: Noonan Syndrome

Cardiofaciocutaneous and Noonan syndromes are sometimes considered the same entity. ... Short stature and mild mental retardation are the main features of this syndrome. Webbed neck, heart defects, chest deformities ... many characteristics of which overlap those of the Turner syndrome. ... A cardiofacial syndrome with a variable phenotype, which may change with age, ...

*  RRAS gene - Genetics Home Reference

Noonan syndrome. Related Information. *What is a gene mutation and how do mutations occur? ...

*  A2ML1 Gene - GeneCards | A2ML1 Protein | A2ML1 Antibody

Diseases associated with A2ML1 include Noonan Syndrome 1 and Otitis Media. GO annotations related to this gene include serine- ... Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases ...

*  Phospho anti-CBL (S669) antibody [EPR2226(2)] (ab108364) | Abcam

Defects in CBL are the cause of Noonan syndrome-like disorder (NSL) [MIM:613563]. NSL is a syndrome characterized by a ... phenotype reminiscent of Noonan syndrome. Clinical features are highly variable, including facial dysmorphism, short neck, ...

*  NewYork-Presbyterian Queens - Heart Conditions in Children - Factors Contributing to CHD

Noonan syndrome. *Mucopolysaccharidoses. Other genetic syndromes which are not due to a single gene defect but are associated ... Several health problems with one genetic cause are often referred to as a syndrome. Some of the genetic syndromes associated ... Problems with chromosomes that result in genetic syndromes, such as Down syndrome, often result in a higher incidence of infant ... DiGeorge syndrome (deletion 22q11). Chromosome analysis can be performed from a small blood sample to rule out the presence of ...

*  Anti-B-Raf Antibody, clone EP152Y,, rabbit monoclonal | 04-328

Defects in BRAF are the cause of Noonan syndrome type 7 (NS7) [MIM:613706]. Noonan syndrome is a disorder characterized by ... CFC syndrome) [MIM:115150]; also known as cardio-facio-cutaneous syndrome. CFC syndrome is characterized by a distinctive ... Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic ... Defects in BRAF are the cause of LEOPARD syndrome type 3 (LEOPARD3) [MIM:613707]. LEOPARD3 is a disorder characterized by ...

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... and intensively focused information about Noonan Syndrome in a compact format. The editors have built Noonan Syndrome: New ... Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition: ScholarlyPaper Q. Ashton Acton, PhD January 9, ... The content of Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world's ... Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, ...

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Uhlen, P., Burch, P. M., Zito, C. I., Estrada, M., Ehrlich, B. E. and Bennett, A. M. (2006). Gain-of-function/Noonan syndrome ... Devic's syndrome), which is a demyelinating condition (Lennon et al., 2005). This finding has led to the development of an ...

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Noonan's syndrome, Prader-Willi syndrome, Russell-Silver syndrome, turner's syndrome ... Russell-Silver syndrome, Turner's syndrome, Prader-Willi syndrome, Noonan's syndrome, chondroplasias, and more. ... Turner's syndrome, Prader-Willi syndrome, Noonan's syndrome, chondroplasias, and more.. For more information about Human Growth ... Turner's syndrome, Prader-Willi syndrome, Noonan's syndrome, chondroplasias, and more. For more information about Human Growth ...

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"No, she specifically said Julia did not have Down and Turner syndrome--but she didn't mention Noonan syndrome. So that's one ... "This kid has what's called 'Noonan syndrome.' You'll recognize some of Julia's defects: short stature, scoliosis, protruding ... "Nine kids here, all with different syndromes-or multiple dysmorphologies. Syndromes named 'Costello', 'Factor XI', 'Turner', ' ... Down syndrome kids were the ones most of us knew about. You could easily identify the physical traits that cluster together in ...

*  SHP2抗体|Abcam中国|Anti-SHP2抗体(ab10555)

Defects in PTPN11 are the cause of Noonan syndrome type 1 (NS1) [MIM:163950]. Noonan syndrome (NS) is a disorder characterized ... Some patients with Noonan syndrome type 1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which ... It is an autosomal dominant disorder allelic with Noonan syndrome. The acronym LEOPARD stands for lentigines, ... JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome ...

*  DMOZ - Health: Mental Health: Disorders: Neurodevelopmental: Autism Spectrum: Personal Pages

Support and information about Asperger's Syndrome, Noonan Syndrome, autism, and other disorders. ... Autism - Asperger Syndrome: A Personal Experience Eric's story about the disorder and what helped his condition. Includes ...

*  Munchausen Syndrome by Proxy Label Destroys Families - Covers Up Vaccine Injuries

In my first article titled Munchausen Syndrome by Proxy - A False Diagnosis to Blame Parents for Vaccine Injuries and Deaths, I ... We ask this because Ashleigh suffers from Noonan's syndrome, a blood clotting disorder causing frequent infections. She is also ... Munchausen Syndrome by Proxy - A False Diagnosis to Blame Parents for Vaccine Injuries and Deaths?. ... Munchausen Syndrome by Proxy Label Destroys Families - Covers Up Vaccine Injuries. Join the Discussion. (0) ...

*  Rare Cancer News & Clinical Trials » Trial - Neuroendocrine Cancers » February 8, 2017

Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/ ... Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia ... DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukaemia; Familial Adenomatous Polyposis; ... Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau ...

*  Awareness Ribbon Color Meanings

Hypo Plastic Left Heart Syndrome. Noonan's Syndrome Awareness Ribbons. Pulmonary Fibrosis Awareness Ribbons ...

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it may occur on its own or as part of a genetic syndrome with other features, such as turner syndrome, down syndrome or noonan ... AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome). ... syndrome. in adults it may result from trauma, or from earlier respiratory infections. in many cases, the cause is not known. ...

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*  Bring awareness to Texas concerning Prader-Willi Syndrome. · Causes

Our loved ones in Texas with Prader-Willi Syndrome need higher levels of care and current state program restructuring. Join the ... Tom Noonan, Cheri Wood & June Finnerty representing the Texas Prader-Willi Association at the Texas State Capitol to discuss ... Bring awareness to Texas concerning Prader-Willi Syndrome. Our loved ones in Texas with Prader-Willi Syndrome need higher ... Bring awareness to Prader-Willi Syndrome. Campaign closed. 164 signed the petition to We are petitioning the State of Texas. ...

*  Medicowesome: H. pylori infection : Facts and Fallacies

Noonan syndrome mnemonic. *Liposomal Preparations : A Quick Review. *H. pylori infection : Facts and Fallacies ...

*  MedicoNotebook: Arlt

Noonan Syndrome Turner Syndrome Normal Karyotype XO (60%) MC heart sisease 1. ... ... Boerhaave's syndrome vs Mallory-Weiss syndrome. Boerhaave's syndrome vs Mallory-Weiss syndrome Boerhaave's syndrome Mallory- ... Noonan Syndrome Turner Syndrome Normal Karyotype XO (60%) MC heart sisease 1. ... ... "Arlt's syndrome": A contagious eye infection caused by Chlamydia trachomatis.. *"Arlt's triangle": keratic precipitates ...

*  MedicoNotebook: Neuromuscular junction (NMJ)

Noonan Syndrome Turner Syndrome Normal Karyotype XO (60%) MC heart sisease 1. ... ... Boerhaave's syndrome vs Mallory-Weiss syndrome. Boerhaave's syndrome vs Mallory-Weiss syndrome Boerhaave's syndrome Mallory- ... Noonan Syndrome Turner Syndrome Normal Karyotype XO (60%) MC heart sisease 1. ... ...

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Noonan Syndrome Turner Syndrome Normal Karyotype XO (60%) MC heart sisease 1. ... ... Boerhaave's syndrome vs Mallory-Weiss syndrome. Boerhaave's syndrome vs Mallory-Weiss syndrome Boerhaave's syndrome Mallory- ... Noonan Syndrome Turner Syndrome Normal Karyotype XO (60%) MC heart sisease 1. ... ...

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Noonan Syndrome Turner Syndrome Normal Karyotype XO (60%) MC heart sisease 1. ... ... Boerhaave's syndrome vs Mallory-Weiss syndrome. Boerhaave's syndrome vs Mallory-Weiss syndrome Boerhaave's syndrome Mallory- ... Noonan Syndrome Turner Syndrome Normal Karyotype XO (60%) MC heart sisease 1. ... ...

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The Sexual Harassment Racket is Over, by Peggy Noonan for Wall Street Journal 1 week ago ... This site is THE CESSPOOL of the Internet where Clinton Derangement Syndrome is a way of life. ... The Sexual Harassment Racket is Over, by Peggy Noonan for Wall Street Journal 1 week ago ...

Daniel NoonanNeuro-cardio-facial-cutaneous syndromes: Neuro-cardio-facial-cutaneous-syndromes (NCFC), (also referred to as neuro-craniofacial-cardiac syndromes) is a group of developmental disorders with a genetic ground, affecting the nervous system, circulatory system, (cranio)facial and cutaneous development. These four parts are the common denominator for the syndromes, but are mostly accompanied by disturbances in other parts of the body.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Helene CostelloFacies (medical): In medical contexts, a facies is a distinctive facial expression or appearance associated with specific medical conditions.Loose anagen syndrome: Loose anagen syndrome (also known as "Loose anagen hair syndrome") is primarily described in fair-haired children who have easily dislodgable hair.Freedberg, et al.Stenosis of pulmonary arteryEyebrow: The eyebrow is an area of thick, delicate hairs above the eye that follows the shape of the lower margin of the brow ridges of some mammals. Their main function is hypothesized to prevent sweat, water, and other debris from falling down into the eye socket, but they are also important to human communication and facial expression.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..YopH, N-terminal: In molecular biology, YopH, N-terminal refers to an evolutionary conserved protein domain. This entry represents the N-terminal domain of YopH protein tyrosine phosphatase (PTP).CherubismFrontonasal dysplasia: Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis, frontonasal malformation or Tessier cleft number 0/14) is a congenital malformation of the midface.Lenyoun EH, Lampert JA, Xipoleas GD, Taub PJ (2011) Salvage of calvarial bone graft using acellular dermal matrix in nasal reconstruction and secondary rhinoplasty for frontonasal dysplasia.Aplasia cutis congenita: (ILDS Q84.810)BezoarCongenital heart defectGermline STAT 1 Mutation: Interferons induce the formation of two transcriptional activators: gamma-activating factor (GAF) and interferon-stimulated gamma factor 3 (ISGF3). A natural heterozygous germline STAT1 mutation associated with susceptibility to mycobacterial but not viral disease was found in two unrelated patients with unexplained mycobacterial disease.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Raf-like Ras-binding domain: B:56-131, B:56-131, :56-131 :56-131 A:366-374, A:19-91Neurofibromatosis type 4: Neurofibromatosis type 4 (also known as "Neurofibromatosis variant type") resembles von Recklinghausen's disease, but also presents with cutaneous neurofibromas.James, William; Berger, Timothy; Elston, Dirk (2005).Myocardial disarray: Myocardial disarray, also known as myocyte disarray, is a term to describe the loss of the normal parallel alignment of myocytes (the muscle cells of the heart). Instead, the myocytes usually form circles around foci of connective tissue.Hippo signaling pathway: The Hippo signaling pathway, also known as the Salvador/Warts/Hippo (SWH) pathway, controls organ size in animals through the regulation of cell proliferation and apoptosis. The pathway takes its name from one of its key signaling components—the protein kinase Hippo (Hpo).

(1/181) Feeding difficulties and foregut dysmotility in Noonan's syndrome.

PURPOSE: Noonan's syndrome is a common dysmorphic syndrome in which failure to thrive and gastrointestinal symptoms are frequent but poorly understood. DESIGN: Twenty five children with Noonan's syndrome were investigated by contrast radiology, pH monitoring, surface electrogastrography (EGG), and antroduodenal manometry (ADM). RESULTS: Sixteen had poor feeding and symptoms of gastrointestinal dysfunction. All 16 required tube feeding. Seven of 25 had symptoms of foregut dysmotility and gastro-oesophageal reflux. In the most symptomatic children (four of seven) EGG showed fasting frequency gradient loss along the stomach fundus and pylorus with antral postprandial frequency loss. ADM showed shortened fasting cycle length, with abnormal phase III and shortened postprandial activity containing phasic contractions. IMPLICATIONS: Gastroduodenal motor activity was reminiscent of 32-35 week preterm patterns. The feeding difficulties appear to resolve as gut motility matures. In Noonan's syndrome, feeding problems appear to be the result of delayed gastrointestinal motor development.  (+info)

(2/181) Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male.

A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis with SHOX and SRY gene probes was carried out. One copy of both SHOX and SRY was detected in interphase nuclei, clarifying the origin of LWD and the male phenotype. Molecular results suggested that the 45,X karyotype arose through two independent events. The first occurred at paternal meiosis leading to an unequal crossing over between the short arms of the X and Y chromosomes. As a consequence, the SRY gene was translocated onto Xp, thereby explaining the male phenotype of the patient. The second event probably occurred at maternal meiosis or at the early stages of the zygote resulting in the loss of the maternal X chromosome.  (+info)

(3/181) A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoceptor antagonist treatment.

OBJECTIVES: The study analyzed factors, including treatment, affecting disease-related death in patients with hypertrophic cardiomyopathy (HCM) presenting in childhood. BACKGROUND: Previous smaller studies suggest that mortality is higher in patients with HCM presenting in childhood compared with presentation in adulthood, but these studies have all originated from selected patient populations in tertiary referral centers, and reported no significant protection by treatment. METHODS: Retrospective comparisons of mortality were done in total cohort of patients presenting to three regional centers of pediatric cardiology. There were 66 patients (25 with Noonan's syndrome) with HCM presenting at age <19 years; mean follow-up was 12.0 years. RESULTS: Among risk factors for death were congestive heart failure (p = 0.008), large electrocardiogram voltages (Sokolow-Lyon index p = 0.0003), and degree of septal (p = 0.004) and left ventricular (p = 0.028) hypertrophy expressed as percent of 95th centile value. The only treatment that significantly reduced the risk of death on multifactorial analysis of variance was high-dose beta-adrenoceptor antagonist therapy (propranolol 5 to 23 mg/kg/day or equivalent; p = 0.0001). Nineteen out of 40 patients managed conventionally (no treatment, 0.8 to 4 mg/kg of propranolol, or verapamil) died, median survival 15.8 years, with no deaths among 26 patients on high-dose beta-blockers (p = 0.0004); survival proportions at 10 years were 0.65 (95% confidence interval 0.49-0.80) and 1.0, respectively (p = 0.0015). Survival time analysis shows better survival in the high-dose beta-blocker group compared with the "no specific therapy" group (p = 0.0009) and with the conventional-dose beta-blocker group (p = 0.002). Hazard ratio analysis suggests that high-dose beta-blocker therapy produces a 5-10-fold reduction in the risk of disease-related death. CONCLUSIONS: High-dose beta-blocker therapy improves survival in childhood HCM.  (+info)

(4/181) Noonan syndrome: a clinical and genetic study of 31 patients.

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.  (+info)

(5/181) Bilateral coronary artery dilatation in a child with Noonan syndrome.

A rare case of a child with Noonan syndrome who had huge bilateral coronary artery dilatation is presented. Noonan syndrome is one of the most common nonchromosomal syndromes seen in children with cardiovascular abnormalities. Coronary artery abnormality should be considered in Noonan syndrome, because this syndrome may be associated with a higher incidence of coronary anomalies than previously thought.  (+info)

(6/181) Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.  (+info)

(7/181) Cardiac findings in 31 patients with Noonan's syndrome.

OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and Doppler echocardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.  (+info)

(8/181) Biventricular hypertrophic cardiomyopathy with right ventricular outflow tract obstruction associated with Noonan syndrome in an adult.

This report describes an adult patient with Noonan syndrome accompanied by biventricular hypertrophic cardiomyopathy causing isolated right ventricular outflow tract obstruction. Biventricular hypertrophic cardiomyopathy causing right- and/or left-side outflow tract obstruction, as well as valvular pulmonary stenosis, is relatively common in infants with Noonan syndrome. However, this condition without a dysplastic pulmonary valve, or indeed any polyvalvular dysplasia, is rare in adults with Noonan syndrome. Treatment with a beta-adrenergic receptor blocking agent improved the patient's symptoms. Because neither the etiologic and prognostic relationship nor the genetic linkage between hypertrophic cardiomyopathy associated with Noonan syndrome and non-syndromic hypertrophic cardiomyopathy is clearly defined, clinicopathological findings and further follow-up may provide important evidence for the pathogenesis of hypertrophic cardiomyopathy.  (+info)



phenotype

  • A cardiofacial syndrome with a variable phenotype, which may change with age, many characteristics of which overlap those of the Turner syndrome. (dmoztools.net)
  • NSL is a syndrome characterized by a phenotype reminiscent of Noonan syndrome. (abcam.com)

Turner

  • it may occur on its own or as part of a genetic syndrome with other features, such as turner syndrome, down syndrome or noonan syndrome. (malacards.org)
  • HGH is important for the growth of bones and muscles, and is used to treat growth failure in children and adults lacking natural HGH, and in those with chronic kidney failure, Noonan syndrome, Turner syndrome, Prader-Willi syndrome, short stature at birth with no catch-up growth, and other causes. (coloradorv.com)

disorder

  • Defects in CBL are the cause of Noonan syndrome-like disorder (NSL) [MIM: (abcam.com)
  • It is an autosomal dominant disorder allelic with Noonan syndrome. (abcam.cn)

genetic

  • Problems with chromosomes that result in genetic syndromes, such as Down syndrome, often result in a higher incidence of infant heart malformations. (nyhq.org)

diagnosis

  • In my first article titled Munchausen Syndrome by Proxy - A False Diagnosis to Blame Parents for Vaccine Injuries and Deaths , I described what Munchausen syndrome by proxy (MSBP) is, the man behind the label, Sir Roy Meadow, and his involvement in the Joint Committee of Vaccination and Immunization, an organization that sanctions vaccines in the UK. (medicalkidnap.com)

Diseases

  • Diseases associated with A2ML1 include Noonan Syndrome 1 and Otitis Media . (genecards.org)

features

  • Short stature and mild mental retardation are the main features of this syndrome. (dmoztools.net)
  • Includes the alternate names, a summary and a list of major features for Noonan syndrome. (dmoztools.net)

type

  • Defects in PTPN11 are the cause of LEOPARD syndrome type 1 (LEOPARD1) [MIM: (abcam.cn)
  • Some patients with Noonan syndrome type 1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villomoduolar synovitis (PVNS) when occurring in the jaw or joints. (abcam.cn)

leukemia

  • JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. (abcam.cn)

Families

  • For many families living with Prader-Willi Syndrome, our true celebration begins now with the holiday season finally coming to an end. (causes.com)
  • The Texas Prader-Willi Association was created by Texas families in order to enhance the quality of lives for all affected by Prader-Willi Syndrome (PWS). (causes.com)

higher

  • Our loved ones in Texas with Prader-Willi Syndrome need higher levels of care and current state program restructuring. (causes.com)

Children

  • About three children who have been diagnosed with Asperger's Syndrome. (dmoztools.net)