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Alternative titles; symbols. Other entities represented in this entry:. Noonan syndrome NS is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears.
Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects chest and spine deformities , webbed neck, mental retardation, cryptorchidism, and bleeding diathesis summary by Tartaglia et al.
Mutations in the neurofibromin gene NF1; , which is the site of mutations causing classic neurofibromatosis type I NF1; , have been found in neurofibromatosis-Noonan syndrome NFNS; The disorder now known as Noonan syndrome bears similarities to the disorder described by Turner and shown by Ford et al.
Migeon and Whitehouse described 2 families, each with 2 sibs with somatic features of the Turner phenotype. In 1 family, 2 brothers had webbing of the neck, coarctation of the aorta, and cryptorchidism. In the second, a brother and sister were affected. Diekmann et al.
Noonan reported 19 patients of whom 17 had pulmonary stenosis and 2 had patent ductus arteriosus see Twelve were males and 7 were females. Deformity of the sternum with precocious closure of sutures was a frequent feature. Among 95 male patients with pulmonary stenosis, Celermajer et al. In 5 of these, karyotyping was performed.
In 4 the chromosomes were normal; in 1, an extra acrocentric chromosome was present. Kaplan et al. Nora and Sinha observed mother-to-offspring transmission in 3 families; in 1 family, transmission was through 3 generations. Baird and De Jong described 7 cases in 3 generations.
One affected woman had 5 affected children out of 6 with 2 different husbands. Seizures and anomalous upper lateral incisors may have been coincidental.
Simpson et al. A particularly convincing pedigree for autosomal dominant inheritance was reported by Bolton et al. Four of the 5 affected persons had pulmonic stenosis. Father-to-son transmission was reported by Qazi et al. Koretzky et al. Although some relatives had pulmonary valvular stenosis of the standard dome-shaped variety, the valvular dysplasia in others was characterized by the presence of three distinct cusps and no commissural fusion.
The obstructive mechanism was related to markedly thickened, immobile cusps, with disorganized myxomatous tissue. Other features were retarded growth, abnormal facies triangular face, hypertelorism, low-set ears and ptosis of the eyelids , absence of ejection click, and unusually marked right axis deviation by electrocardiogram.
It now seems clear that the patients of Koretzky et al. When it does occur, it opens the possibility of prenatal diagnosis by imaging methods or by AFP level. Noonan syndrome was one of the causes found for posterior cervical hygroma in a series of previable fetuses studied by Kalousek and Seller The authors found, furthermore, that 45,X Turner syndrome lethal in the fetal period showed a constant association of 3 defects, posterior cervical cystic hygroma, generalized subcutaneous edema, and preductal aortic coarctation.
Evans et al. Donnenfeld et al. The hygroma had regressed by the time of birth leaving nuchal skin fold redundancy and pterygium colli. On the basis of studies of genital tract function in 11 adult males with Noonan syndrome, Elsawi et al. Four of the 11 men had fathered children. Lee et al. Allanson et al. They pointed out that the manifestations may be subtle in adults. Ranke et al. The size at birth was normal in both sexes. In both males and females, the mean height followed along the 3rd percentile until puberty, but decreased transiently due to an approximately 2-year delay in onset of puberty.
Final height approaches the lower limits of normal at the end of the second decade of life. The mean adult height was Allanson provided a useful review.
The fetal primidone syndrome, occurring in the offspring of mothers taking this anticonvulsant, closely simulates the Noonan syndrome. Baraitser and Patton reported 4 unrelated children 2 boys, 2 girls with a Noonan-like syndrome associated with sparse hair as a conspicuous feature. See Leichtman reported a family suggesting that cardiofaciocutaneous syndrome CFC; is a variable expression of Noonan syndrome.
He described a 4-year-old girl who had all of the manifestations of CFC syndrome characteristic facial and cardiac anomalies, developmental delay, hypotrichosis, eczematic eruption with resistance to treatment , whose mother had typical characteristics of Noonan syndrome.
Lorenzetti and Fryns reported a year-old boy with Noonan syndrome and retinitis pigmentosa. Because similar eye defects are found in CFC syndrome, the authors suggested that CFC and Noonan syndromes might be variable manifestations of the same entity. However, Neri and Zollino noted distinctions between the patient reported by Lorenzetti and Fryns and CFC syndrome, and stated that similarity of eye defects is not enough to conclude that CFC and Noonan syndromes are the same condition.
Early feeding difficulties are common in Noonan syndrome but often go unrecognized. Shah et al. Sixteen had poor feeding poor suck or refusal to take solids or liquids and symptoms of gastrointestinal dysfunction vomiting, constipation, abdominal pain, and bloating. All 16 had required nasogastric tube feeding. Seven of the 25 had foregut dysmotility and gastroesophageal reflux.
In 4 of these, electrogastrography and antroduodenal manometry demonstrated immature gastric motility reminiscent of that of a preterm infant of 32 to 35 weeks' gestation. Other children had less severe forms of gastric dysmotility. The authors highlighted the importance of recognizing this common, treatable feature of Noonan syndrome.
Lemire described a father, son, and daughter with an apparently autosomal dominant disorder characterized by craniofacial anomalies, coarctation of the aorta, hypertrophic cardiomyopathy, and other structural heart defects with normal psychomotor development.
Some clinical features such as webbed neck, low-set ears, low posterior hairline, and widely spaced nipples suggested Noonan syndrome. Alternatively, a previously unrecognized disorder was considered.
The paternal age at the father's birth was 50 years. The father presented at age 13 years when postductal coarctation of the aorta was discovered during routine physical examination. Preoperative evaluation showed hypertrophied interventricular septum with pulmonic stenosis and bicuspid aortic valve in addition to the aortic coarctation. At age 22 years, echocardiogram showed marked systolic thickening of interventricular septum and posterior wall of the left ventricle and concentric left ventricular hypertrophy.
He later developed atrial flutter and congestive heart failure. His son was recognized at birth to have 2 small ventricular septal defects, mildly hypoplastic aortic arch, and coarctation of the aorta. The coarctation was repaired at age 14 days and bilateral inguinal hernias at age 5 weeks. At age 9 months, he was found to have congestive heart failure due to a restrictive cardiomyopathy.
At age 10 months, studies confirmed the presence of spongy myocardium with much impaired diastolic function. He died of early acute graft failure at age 14 months after heart transplantation. Autopsy showed restrictive cardiomyopathy with generalized myocardium hypertrophy. The daughter was found at birth to have a small ventricular septal defect, small patent ductus arteriosus, aneurysm of the atrial septum, and coarctation of the aorta.
Cardiomyopathy was suspected on the basis of excessive thickening of the lower two-thirds of the interventricular septum and of the free wall of the right ventricle. Coarctation of the aorta was repaired surgically at age 19 days. At age At age 2 years, bicuspid aortic valve and diffuse concentric hypertrophy of the left ventricle were noted. Holder-Espinasse and Winter described a 6-year-old girl with clinical features of Noonan syndrome, short stature, and headache who was noted to have Arnold-Chiari malformation on MRI.
Holder-Espinasse and Winter concluded that Chiari malformation should be considered part of the Noonan syndrome spectrum and that brain and cervical spine MRI should be required in patients with Noonan syndrome, particularly if headaches or neurologic symptoms are present. For a comprehensive review of Turner syndrome, including clinical management, see Ranke and Saenger Kondoh et al. Noonan et al. The presence or severity of heart disease was not a factor, and none of the adults with normal height had been treated with growth hormone.
Serial measurements of height over many years through childhood to adulthood were available in only a few patients, but their pattern of growth suggested that catch up may occur in late adolescence. The possible benefit of growth hormone therapy could not be evaluated.
Croonen et al. As reported previously, pulmonary stenosis was the most common cardiac abnormality, followed by atrial septal defect and hypertrophic cardiomyopathy. Among 40 Italian patients with Noonan syndrome, Ferrero et al. PTPN11 mutations were detected in 11 sporadic patients and 1 family, totaling 12 One patient without a detectable mutation had a Chiari I malformation with seizures.
Another of the remaining patients had a mutation in the SOS1 gene. Kruszka et al.
Síndrome de Noonan
Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth philtrum , widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward. Affected individuals may have a high arch in the roof of the mouth high-arched palate , poor teeth alignment, and a small lower jaw micrognathia. Many children with Noonan syndrome have a short neck , and both children and adults may have excess neck skin also called webbing and a low hairline at the back of the neck. Between 50 and 70 percent of individuals with Noonan syndrome have short stature.
2014, Número 610
Alternative titles; symbols. Other entities represented in this entry:. Noonan syndrome NS is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects chest and spine deformities , webbed neck, mental retardation, cryptorchidism, and bleeding diathesis summary by Tartaglia et al.
Aka: Noonan Syndrome. These images are a random sampling from a Bing search on the term "Noonan Syndrome. Search Bing for all related images. Started in , this collection now contains interlinked topic pages divided into a tree of 31 specialty books and chapters. Content is updated monthly with systematic literature reviews and conferences. Although access to this website is not restricted, the information found here is intended for use by medical providers.