No abstract available.
Genetic Heterogeneity ; Growth Hormone ; Noonan Syndrome

Noonan syndrome is featured by short stature, mental retardation, facial dysmorphia, webbed neck, and heart defects. The phenotype has some similarities with Turner syndrome, but the karyotype is normal and males can be affected. We used Bonfils fiberscope for intubation because we suspected the difficult airway. We report the experience of anesthetic management for osteotomy of calcaneonavicular coalition in a patient with Noonan syndrome.
Heart ; Humans ; Intellectual Disability ; Intubation ; Karyotype ; Male ; Neck ; Noonan Syndrome* ; Osteotomy ; Phenotype ; Turner Syndrome

We prsent here a 6 year old who has abnormalities of his genitalia, as well as other characteristic features typical of Turner syndrome. He has a small penis with hypospadias, hypolastic testes, and cryptorchi dism. He has short stature, an abnormal looking face, a wide, short webbed neck, and cubitus valgus. He was found to have hydronephrosis and hydroureter on I. V. P. Chromosomal analysis revealed anormal male karyotype with no apparent aberrations.
Child ; Female ; Genitalia ; Humans ; Hydronephrosis ; Hypospadias ; Karyotype ; Male* ; Neck ; Noonan Syndrome* ; Penis ; Testis ; Turner Syndrome

Congenital pulmonary lymphangiectasia is a rare and perphaps underestimated cause of fatal respiratory distress in the neonate or infant. Pathologically, this condition is characterized by wide lymphatic channels in the subpleural and peribronchovascular spaces and the interlobular septa. Noonan syndrome is characterized by a phenotype similar to Turner syndrome but with a normal karyotype. Both pulmonary and intestinal lymphangiectasia have been reported in patients with Noonan syndrome. We have experienced a case of congenital pulmonary lymphangiectasia in Noonan syndrome, who presented at birth with cyanosis and persistent respiratory distress, and died on 93 postnatal days. We report this case, which was diagnosed by open lung biopsy and autopsy, with brief review of the related literature.
Autopsy ; Biopsy ; Cyanosis ; Humans ; Infant ; Infant, Newborn ; Karyotype ; Lung ; Noonan Syndrome* ; Parturition ; Phenotype ; Turner Syndrome

The Noonan syndrome is a rate clinical syndrome associated with similar congenital abnormalities, that is characteristics of Turner syndrome, such as short stature, webbed neck, low posterior hairline, cubitus valgus, shield chest or funnel chest, congenital features similar to Turner syndrome but with a normal karyotype, and Opitz et al. proposed the name "Noonan syndrome" for this condition in 1965. We experienced a 31-year old man with Noonan syndrome combined with valvular and infundibular pulmonic stenosis who had short stature, webbed neck and normal karyotype. So we report a case Noonan syndrome with a review of literature.
Adult ; Congenital Abnormalities ; Funnel Chest ; Humans ; Karyotype ; Neck ; Noonan Syndrome* ; Pulmonary Valve Stenosis* ; Thorax ; Turner Syndrome

Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.
Asian Continental Ancestry Group ; Early Diagnosis ; Growth Charts* ; Humans ; Methods ; Noonan Syndrome* ; Selection Bias ; Turner Syndrome*

PURPOSE:Noonan syndrome(NS) is characterized by short stature, congenital heart disease, and typical facies. Recombinant human growth hormone(GH) has been reported to improve growth rate in a similar fashion to that seen in Turner syndrome. We investigated the clinical characteristics and growth reponses to GH therapy in children with NS. METHODS:The cases of sixty seven patients with NS were reviewed retrospectively. Ten of the 65 patients were assessed height, weight and pubertal stage every 3 months during GH therapy. RESULTS:Webbed neck(70%), delayed development(59.7%), low set posterior hairline(56.7%), eye abnormalities(56.7%) and mental retardation(55.2%) were the leading clinical characteristics. Short stature below the 3rd percentile was presented in 73.8 %. Growth patterns in NS children were variable and the evaluation of their growth must be individualized. The increments of height SDS were significant in children with GH therapy(height SDS:from -2.8+/-.6 to -2.3+/-.9, growth velocity:from 4.4+/-.8 cm to 9.2+/-.9 cm during first year, and 6.1+/-.1 cm during second year) (P<0.05). CONCLUSION: This study characterized the clinical profiles in Korean children with NS, which should be further extended with more children with NS. Additionally, the significant increase in final adult height after GH therapy in children with NS should be observed.
Adult ; Child* ; Facies ; Heart Defects, Congenital ; Humans ; Noonan Syndrome* ; Retrospective Studies ; Turner Syndrome

PURPOSE:Noonan syndrome(NS) is characterized by short stature, congenital heart disease, and typical facies. Recombinant human growth hormone(GH) has been reported to improve growth rate in a similar fashion to that seen in Turner syndrome. We investigated the clinical characteristics and growth reponses to GH therapy in children with NS. METHODS:The cases of sixty seven patients with NS were reviewed retrospectively. Ten of the 65 patients were assessed height, weight and pubertal stage every 3 months during GH therapy. RESULTS:Webbed neck(70%), delayed development(59.7%), low set posterior hairline(56.7%), eye abnormalities(56.7%) and mental retardation(55.2%) were the leading clinical characteristics. Short stature below the 3rd percentile was presented in 73.8 %. Growth patterns in NS children were variable and the evaluation of their growth must be individualized. The increments of height SDS were significant in children with GH therapy(height SDS:from -2.8+/-.6 to -2.3+/-.9, growth velocity:from 4.4+/-.8 cm to 9.2+/-.9 cm during first year, and 6.1+/-.1 cm during second year) (P<0.05). CONCLUSION: This study characterized the clinical profiles in Korean children with NS, which should be further extended with more children with NS. Additionally, the significant increase in final adult height after GH therapy in children with NS should be observed.
Adult ; Child* ; Facies ; Heart Defects, Congenital ; Humans ; Noonan Syndrome* ; Retrospective Studies ; Turner Syndrome

We report a case of a Filipino male diagnosed with Noonan syndrome on the basis of facial dysmorphism, chest deformity, short stature, mental and skeletal retardation, pulmonic stenosis and hypogonadism. In addition, he has three clinical features which are not known to be associated with the syndrome and are perhaps being reported for the first time:structurally normal kidneys with nephrotic syndrome, pituitary macroadenoma and pes varus.

PURPOSE: Noonan syndrome (NS) is characterized by short stature, congenital heart defects, mild mental retardation, and characteristic faces. We investigated the efficacy of growth hormone (GH) treatment and the adverse effect compared to sex and age-matched patients with growth hormone deficiency (GHD). METHODS: We included patients whose Noonan scores were over 60, treated with GH in Severance Children's Hospital. We analyzed height and height velocity before and during GH treatment in 14 NS patients (0.81 +/- 0.13 U/kg/wk) and also in 42 patients with sex- and age-matched GHD as a control group (0.78 +/- 0.17 U/kg/wk) at intervals of 3 months. RESULTS: At the start of GH treatment, mean age was 10.0 +/- 2.4 years, and mean height was 123.3 +/- 13.5 cm, and the height SDS was -2.79 +/- 0.85 in NS, while the mean age was 10.3 +/- 2.6 years, mean height was 119.6 +/- 13.5 cm, and the height SDS was -3.43 +/- 1.56 in GHD. Mean duration was 3.8 +/- 2.1 years in NS and 4.9 +/- 2.4 years in GHD. Mean height SDS increased from -2.79 SDS to -1.94 SDS in NS (p = 0.007) and from -3.43 SDS to -1.82 SDS in GHD (p 0.0001). Growth velocity increased from 3.7 +/- 1.2 cm/yr to 8.5 +/- 2.5 cm/yr (p < 0.0001) and 6.5 +/- 2.9 cm/yr (p = 0.016) during the first and second years of GH treatment, respectively, in NS and from 3.4 +/- 1.5 cm/yr to 8.8 +/- 2.3 cm/yr (p < 0.0001) and 8.1 +/- 3.2 cm/yr (p < 0.0001) in GHD. No severe adverse effects were observed during treatment. CONCLUSION: GH treatment in the NS patients increased growth velocity significantly, especially during the 1st year of treatment. GH treatment in NS is thought to be effective and relatively safe.
Growth Hormone ; Heart Defects, Congenital ; Humans ; Intellectual Disability ; Noonan Syndrome ; Treatment Outcome