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Neurofibromatosis‐Noonan Syndrome
Pediatric Dermatology, 1995Abstract: Type I neurolibromatosis (NF‐1) and Noonan syndrome (NS) are two fairly common genetic disorders. Patients with features of both disorders have been described, but considerable variability of phenotypic expression occurs. As a result, the correct nosology of this syndrome is uncertain.
L, Buehning, C J, Curry
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Noonan's Syndrome with Syringomyelia
Psychiatry and Clinical Neurosciences, 1986Abstract: A case of Noonan's syndrome with cervical syringomyelia is presented here representing the second reported instance of such association. A CT of metrizamide myelography revealed a high density in the middle subintradural space in the cervical region below C2. Sensory dissociation was minimal and localized in the left C4.
I, Kobayashi +4 more
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Journal of Paediatrics and Child Health, 2011
Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability.
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Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability.
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European Heart Journal, 1983
Twenty-one patients with Noonan syndrome are presented. Telecanthus low-set ears, epicanthus and facial asymmetry were the commoner facial stigmata. Pterygium colli, pectus excavatum-carinatum and mild physical and mental retardation were also common features.
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Twenty-one patients with Noonan syndrome are presented. Telecanthus low-set ears, epicanthus and facial asymmetry were the commoner facial stigmata. Pterygium colli, pectus excavatum-carinatum and mild physical and mental retardation were also common features.
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Pediatric Neurology, 1997
We report a patient with Noonan syndrome and asymptomatic cardiac disease (supravalvular aortic stenosis and pulmonary valvular stenosis) who had frequent transient ischemic attacks. Bilateral moyamoya was evident; in addition, he manifested activated protein C resistance and was heterozygous for the factor V Leiden mutation.
Ganesan, V., Kirkham, F.J.
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We report a patient with Noonan syndrome and asymptomatic cardiac disease (supravalvular aortic stenosis and pulmonary valvular stenosis) who had frequent transient ischemic attacks. Bilateral moyamoya was evident; in addition, he manifested activated protein C resistance and was heterozygous for the factor V Leiden mutation.
Ganesan, V., Kirkham, F.J.
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Acta Medica Scandinavica, 1980
ABSTRACT. A case of Ullrich‐Noonan syndrome with pulmonary stenosis, epicanthus, ptosis, small stature, curved tibia, positive sex chromatin, and a diploid chromosome number is presented. A detailed chromosomal banding analysis with the G‐staining, C‐staining and Ag‐I‐staining techniques revealed no significant anomalies.
B W, Johansson, N, Mandahl
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ABSTRACT. A case of Ullrich‐Noonan syndrome with pulmonary stenosis, epicanthus, ptosis, small stature, curved tibia, positive sex chromatin, and a diploid chromosome number is presented. A detailed chromosomal banding analysis with the G‐staining, C‐staining and Ag‐I‐staining techniques revealed no significant anomalies.
B W, Johansson, N, Mandahl
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The History of Noonan Syndrome.
Pediatric endocrinology reviews : PER, 2019Early in her career, Jacqueline Noonan, a pediatric cardiologist, recognized that a number of children with valvular pulmonary stenosis had similar facial features. Dr. Noonan reported the clinical characteristics of this condition including short stature, hypertelorism, ptosis, mild mental retardation, undescended testes, and skeletal malformations ...
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Lymphedema in Noonan's Syndrome
International Journal of Dermatology, 1984ABSTRACT: Chronic edema can be debilitating in Noonan's syndrome. Transient childhood lymnphedema may be followed by elephantiasis as early as adolescence. Recurrent streptococcal cellulitis exacerbates this problem. Hygenic measures and prophylactic antiobiotic therapy may slow progression of lymphedema of the legs in Noonan's syndrome.
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2010
Abstract Noonan syndrome (NS) is a genetic disorder characterized by short stature, typical facial dysmorphology, and congenital heart defects. Noonan syndrome may occur on a sporadic basis or in a pattern consistent with autosomal dominant inheritance, with a predominance of maternal transmission (Noonan 1994).
Ellen Wingbermüuhle +1 more
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Abstract Noonan syndrome (NS) is a genetic disorder characterized by short stature, typical facial dysmorphology, and congenital heart defects. Noonan syndrome may occur on a sporadic basis or in a pattern consistent with autosomal dominant inheritance, with a predominance of maternal transmission (Noonan 1994).
Ellen Wingbermüuhle +1 more
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Bleeding disorders in Noonan syndrome
Pediatric Blood & Cancer, 2011AbstractNoonan Syndrome (NS) is a common genetic disease with multiple organ defects including bleeding disorders, which was last reviewed in 1997. Since then significant information has been acquired regarding bleeding problems in NS, specifically on the underlying genetics.
Benjamin J, Briggs, Joseph D, Dickerman
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