scholarly journals Isolated Pulmonary Valvular Stenosis – Noonan Syndrome – A Case Report

1970 ◽  
Vol 5 (2) ◽  
pp. 91-93
Author(s):  
Md Abu Siddique ◽  
Md Mhurshid Ahmed ◽  
Md Durul Hoda ◽  
Yeshey Penjore ◽  
Syed Ali Ahsan ◽  
...  
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Key Words ◽  
Noonan Syndrome ◽  
Autosomal Dominant ◽  
Pulmonary Stenosis ◽  
Bleeding Diathesis ◽  
Short Neck ◽  
Motor Delay ◽  
Valvular Stenosis

Noonan syndrome is an autosomal dominant dysmorphic characterized by hypertelorism, a downward eyeslant, and low-set posteriorly rotated ears. Other features include short stature, a short neck with webbing or redundancy of skin, cardiac anomalies, epicanthic fold, deafness, motor delay, and a bleeding diathesis. In this case report a 20 years male presented with severe pulmonary stenosis with classical sketetal abnomalities. Key words: Autosomal dominant; pulmonary stenosis DOI: 10.3329/uhj.v5i2.4564 University Heart Journal Vol.5(2) July 2009 pp.91-93

scholarly journals Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report

2016 ◽  
Vol 56 (1) ◽  
pp. 62
Author(s):  
Iffa Mutmainah ◽  
Willy Nillesen ◽  
Farmaditya Mundhofir ◽  
Tri Winarni ◽  
Ineke Van der Burgt ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Facial Features ◽  
Missense Mutations ◽  
Bleeding Diathesis ◽  
Mild Intellectual Disability ◽  
Short Neck ◽  
Autosomal Dominant Disorder ◽  
Chest Deformities

Noonan syndrome (NS; OMIM#163950) is a relatively common autosomal dominant disorder with a worldwide prevalence of approximately 1:1,000 to 1:2,500. The syndrome is characterized by distinctive facial features, congenital heart defects (CHD), and short stature. Distinctive facial features consist of a broad and high forehead, hypertelorism, downslanting palpebral fissures, a high arched palate, low set and posteriorly rotated ears with a thick helix, and a short neck with excess nuchal skin and low posterior hairline. Additional relatively frequent features include chest deformities, cryptorchidism in males, mild intellectual disability, and bleeding diathesis.1,2In 2001, missense mutations in

scholarly journals Noonan syndrome: a clinical and genetic study of 31 patients

1999 ◽  
Vol 54 (5) ◽  
pp. 147-150 ◽  
Author(s):  
Débora Romeo Bertola ◽  
Sofia M. M. Sugayama ◽  
Lilian Maria José Albano ◽  
Ae Kim Chong ◽  
Claudette Hajaj Gonzalez
Keyword(s):  
Congenital Anomaly ◽  
Short Stature ◽  
Family Member ◽  
Genetic Study ◽  
Noonan Syndrome ◽  
Autosomal Dominant ◽  
Clinical Findings ◽  
Multiple Congenital Anomaly ◽  
Genetic Characteristics ◽  
Cardiac Anomalies

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.

scholarly journals Clinical orofacial and myofunctional manifestations in an adolescent with Noonan Syndrome: a case report

Revista CEFAC ◽  
2020 ◽  
Vol 22 (4) ◽  
Author(s):  
Geciane Xavier Torres ◽  
Emerson de Santana Santos ◽  
Carla Patrícia Hernandez Alves Ribeiro César ◽  
Roxane de Alencar Irineu ◽  
Isabel Ribeiro Rocha Dias ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Disease ◽  
Noonan Syndrome ◽  
Speech Therapy ◽  
Autosomal Dominant ◽  
Genetic Diagnosis ◽  
The Face ◽  
Facial Type ◽  
Class Iv

ABSTRACT Noonan syndrome is an autosomal dominant genetic disease with different manifestations, including Speech, Language and Hearing Sciences ones. The authors describe the orofacial and myofunctional manifestations of an adolescent diagnosed with Noonan syndrome, by consulting the Speech, Language and Hearing Sciences record of a 17-year-old male patient, who underwent screening and speech therapy evaluation with a confirmed genetic diagnosis of Noonan syndrome. The results were qualitatively analyzed. The patient had a long facial type, with a disproportion between the lower and middle thirds of the face, ogival palate, and Mallampati class IV. A deficit in mobility and sensitivity of phonoarticulatory organs was also identified, absence of pathological oral and gag reflexes, decreased lip tone and tongue tension, increased speed chewing and inefficient grinding, functional swallowing for assessed consistencies, mild verbal and nonverbal apraxia, and moderate dysarthria. The results confirmed the presence of alterations in the speech-language organs, proving the relevance of the Speech, Language and Hearing Sciences evaluation in Noonan Syndrome, to allow adequate follow-up and treatment.

scholarly journals Klippel Feil Syndrome: A Case Report

2020 ◽  
Vol 19 (1) ◽  
pp. 78-81
Author(s):  
Dhananjoy Das ◽  
M A Chowdhury Arzu ◽  
SM Zafar Hossain
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Head And Neck ◽  
Short Stature ◽  
Neurological Deficit ◽  
Congenital Heart ◽  
Good Prognosis ◽  
Short Neck ◽  
Clinical Triad

Klippel-Feil Syndrome (KFS) is a complex syndrome comprises of classical clinicaltriad of short neck, limitation of head and neck movements and low posteriorhairline. This syndrome is resulting from failure of the normal segmentation ofcervical vertebra.In this present case in addition to classical clinical triad we have found short stature,scoliosis at cervico- dorsal junction and sprengel deformity of the shoulder. Wedidn’t find any association of hearing impairment, congenital heart disease andrenal abnormalities. There was no any neurological deficit and normal schoolperformance.Patient with KFS usually have good prognosis if cardiopulmonary, genitourinary,auditory problems are identified and treated early. Chatt Maa Shi Hosp Med Coll J; Vol.19 (1); January 2020; Page 78-81

scholarly journals Noonan Syndrome: A Case Report

2018 ◽  
Vol 4 (1) ◽  
pp. 82-87
Author(s):  
Fahad Khan ◽  
Sumaita Waqar ◽  
Noor Ul Ain Jamal ◽  
Asra Saleem
Keyword(s):  
Case Report ◽  
Hypertrophic Cardiomyopathy ◽  
Noonan Syndrome ◽  
Genetic Disorders ◽  
Treatment Options ◽  
Clinical Findings ◽  
Leopard Syndrome ◽  
Cubitus Valgus ◽  
Cardiovascular Abnormalities ◽  
Valvular Stenosis

The clinical findings and treatment options of cardiovascular abnormalities in a 20-year old male patient with Noonan syndrome are described with literature review. The classical clinical features of Noonan syndrome which were identified included short stature, abnormalities of ear and eye, low posterior hair line, cubitus valgus and webbed neck. The major cardiovascular abnormalities included pulmonary valvular stenosis and hypertrophic cardiomyopathy. A comparison with Leopard syndrome is made and the overlapping features between the two rare genetic disorders are discussed.

scholarly journals Noonan Syndrome in 12 -Year-Old Male: Case Report and Orthodontic Management of the Occlusion

2020 ◽  
Vol 24 (2) ◽  
pp. 118-126
Author(s):  
Evangelia Chatzistavrou ◽  
Georgios Andreadis
Keyword(s):  
Case Report ◽  
Noonan Syndrome ◽  
Pulmonary Stenosis ◽  
Orthodontic Appliances ◽  
Autosomal Dominant Disorder ◽  
Genetic Syndrome ◽  
Retention Period ◽  
Fixed Orthodontic Appliances ◽  
Gag Reflex ◽  
Chest Deformities

SummaryBackground/Aim: Noonan syndrome (NS) is an autosomal dominant disorder, caused by mutations on genes located on the long arm of chromosome 12. The condition has no sex or race predilection and its incidence is 1 per 1,000 – 2,500 live births. Individuals affected with Noonan syndrome have distinctive facial features, hypertelorism, short stature, congenital heart disease; mainly pulmonary stenosis and hypertrophic cardiomyopathy, chest deformities, variable learning disabilities and mental retardation. Orofacial findings in Noonan syndrome may be high-arched palate, micrognathia, dental malocclusion and articulation difficulties.Case report: The present article reports on a male case of 12 years old, referred for treatment in the orthodontic office. Despite the difficulties of hyperactivity, the light mental delay and the gag reflex, the treatment was completed satisfactorily with fixed orthodontic appliances in 15 months. Both the patient and his parents were happy with the results. The patient is presently undergoing the retention period of this orthodontic treatment.Conclusions: Despite the difficulties of treating a child with a genetic syndrome for his/her malocclusion, the reported case presented in this article proves that it is always worth trying for the benefit of the patient.

Congenital Feline Hypothyroidism With Partially Erupted Adult Dentition in a 10-Month-Old Male Neutered Domestic Shorthair Cat: A Case Report

2018 ◽  
Vol 35 (3) ◽  
pp. 178-186 ◽  
Author(s):  
Teresa Jacobson ◽  
Judy Rochette
Keyword(s):  
Case Report ◽  
Thyroid Hormone ◽  
Short Stature ◽  
Clinical Signs ◽  
Thyroid Stimulating Hormone ◽  
Permanent Dentition ◽  
Gingival Tissue ◽  
Short Neck ◽  
Hair Coat ◽  
Pendulous Abdomen

Congenital feline hypothyroidism was diagnosed in a 10-month-old kitten. The kitten appeared to have disproportionate dwarfism, with the clinical signs of incompletely erupted permanent dentition covered by thickened gingival tissue, short stature, a broad, flattened face, short neck, pendulous abdomen, kitten-like hair coat, and goiter. Hypothyroidism was confirmed with baseline T4, freeT4, and thyroid-stimulating hormone testing. The kitten was treated with thyroid hormone supplementation and monitored. The kitten appeared clinically like a normal healthy cat at 22 months of age on thyroid supplementation.

scholarly journals Larsen Syndrome: A Case Report

2012 ◽  
Vol 32 (1) ◽  
pp. 85-87 ◽  
Author(s):  
N Mitra ◽  
Dr Narayanswamy Kannan ◽  
VS Kumar ◽  
G Kavita
Keyword(s):  
Case Report ◽  
Cleft Palate ◽  
Short Stature ◽  
Key Words ◽  
Cardiac Anomaly ◽  
Congenital Dislocation ◽  
Larsen Syndrome ◽  
Genu Recurvatum

Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. This rare inherited disorder is characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Awareness of this condition and assosciated complications helps in better follow up and management of these patients. Key words: Genu recurvatum; Short stature; Hypodontia; Bifid uvula; Submucosal cleft palate; Cardiac anomaly DOI: http://dx.doi.org/10.3126/jnps.v32i1.5349   J. Nepal Paediatr. Soc. Vol.32(1) 2012 85-87

scholarly journals Autosomal dominant Kenny-Caffey syndrome with congenital hypoparathyroidism, short stature and normal intellect: a case report

2015 ◽  
Vol 2015 (S1) ◽  
Author(s):  
Mary Abraham ◽  
Li Dong ◽  
Shoshana Rath ◽  
Susan O’Connell ◽  
Fiona McKenzie ◽  
...  
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Autosomal Dominant

scholarly journals Cleidocranial Dysplasia: A Case Report

1970 ◽  
Vol 21 (2) ◽  
pp. 166-169
Author(s):  
M Azizul Haque ◽  
ARM Saifuddin Ekram ◽  
M Durrul Huda
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Autosomal Dominant ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Autosomal Dominant Disorder ◽  
Skeletal Abnormalities ◽  
Wide Range

Cleidocranial dysplasia is an autosomal dominant disorder with a wide range of expression, characterized by clavicular aplasia or hypoplasia, retarded cranial ossification, supernumerary teeth, short stature and a variety of other skeletal abnormalities. We are reporting a case of Cleidocranial dysplasia with literature is review. doi: 10.3329/taj.v21i2.3799   TAJ 2008; 21(2): 166-169   

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