Ocular manifestations of Noonan syndrome in the pediatric patient

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

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“…Anterior segment changes (63%) and fundal abnormalities (20%) may be present, nystagmus is seen in 10% of NS patients [26,27]. …”

Section: Clinical Descriptionmentioning

confidence: 99%

Noonan syndrome

Burgt

2007

Orphanet J Rare Dis

307

222

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“…Eye anomalies, especially strabismus and refractive errors, are common. Coloboma is occasional [9,32]. Hearing loss can occur [8][9][10]33].…”

Section: Discussionmentioning

confidence: 99%

Duodenal Hematoma and Pancreatitis Complicating Endoscopic Intestinal Biopsy in a Boy with Noonan Syndrome

Leva

Macchini²,

Cesare³

et al. 2012

J Trauma Treatment

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“…A detailed evaluation of these disorders show 67 [2] to 71% [26] refractive errors. These can be divided into 53% myopia, 14% hyperopia and 13% astigmatism [26]; 50–60% of patients show strabismus [2,30,31]. …”

Section: Ns and Cancermentioning

confidence: 99%

Noonan Syndrome: Introduction and Basic Clinical Features

Rohrer

2009

Horm Res Paediatr

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Noonan syndrome (NS) is a fairly common (1 per 1,000–2,500 live births) autosomal dominantly inherited disorder and the most common syndromal cause of congenital heart disease after Down’s syndrome. The clinical features vary with age, but typical signs of NS include characteristic facial features with hypertelorism, down-slanting palpebral fissures, low-set posteriorly rotated ears, chest and spinal deformities, short stature, specific heart defects, learning disabilities and mild mental retardation. This article gives a brief introduction to NS and its basic clinical features using the established and generally accepted NS scoring system based on family history and facial, cardiac, growth, chest wall and other criteria. Aspects discussed include the definition, epidemiology, etiology, diagnosis and genetics of NS, as well as growth, skeletal and gonadal anomalies, pubertal development, ophthalmic and cutaneous abnormalities and the incidence of cancer in patients with NS.

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Ocular manifestations of Noonan syndrome in the pediatric patient

Cited by 18 publications

References 6 publications

Noonan syndrome

Noonan syndrome

Duodenal Hematoma and Pancreatitis Complicating Endoscopic Intestinal Biopsy in a Boy with Noonan Syndrome

Noonan Syndrome: Introduction and Basic Clinical Features

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