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T.Kamala Priya
T.Gowthami
Case Report
 A 3 year old male child was admitted to pediatric ward
with cough, cold and breathlessness of 7 days
duratio...
What is Noonan Syndrome?
 Noonan Syndrome (NS) is a relatively common congenital
disease that affects both males and fema...
 It used to be referred to as the male version of
TURNER’S SYNDROME (and is still sometimes
described in this way); howev...
Incidence
 It is believed that between approximately 1 in 1,000
and 1 in 2,500 children worldwide are born with NS.
 It ...
TYPES
Based on the gene in which mutation has occurred,
NS is of 5 types:
1. NS 1 – PTPN 11 – a gene on chromosome 12q24.1...
CLINICAL MANIFESTATIONS
 The clinical features the child would have
 Cardio-vascular System:
 Pulmonary Valvular Stenos...
 Gastro-Intestinal System :
 Decreased appetite.
 Frequent vomiting.
 Failure to thrive.
 Intestinal malrotation.
 Genito- Urinary System:
 Cryptorchidism.
 Lymphatic System:
 Posterior Cervical Hygroma.
 Lymphedema.
 Developmental :
 Intellectual disability.
 Clumsiness.
 Motor developmental delay
 Learning disabilities.
 Autism,P...
 Haematologic:
 Easy bruising
 Thrombocytopenia
 Von- Willebrand Disease.
 Prolonged Partial thromboplastin time
 Pa...
Stature and posture:
Short stature
Cervical spine fusion
Scoliosis
Pectus Excavatum or Pectus Carinatum.
Growth retardatio...
 Head:
 Large Head
 Triangular face
 Broad forehead
 Short neck
 Webbed neck
 Curly Hair
 Eyes:
 Hypertelorism
 Ptosis
 Epicanthal folds
 Proptosis
 Refractive errors
 Strabismus
 Nystagmus
 Ears:
 Low Set ears
 Backward rotated ears
 Thick helix of ear
 Incomplete folding of ears
 Sensorineural deafness
...
 Mouth and Speech:
 Deeply grooved philtrum
 Micrognathia
 High arched palate
 Dental problems
 Poor tongue control
 Limbs
 Bluntly ended fingers
 Extra padding on fingers and toes
 Edema of the back of hands and tops of feet
 Cubitu...
 Skin
 Keloid formation
 Hyperkeratosis
 Pigmented Naevi
 Connective tissue disesae
Noonan syndrome
Noonan syndrome
Noonan syndrome
Noonan syndrome
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Noonan syndrome

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Noonan syndrome

  1. 1. T.Kamala Priya T.Gowthami
  2. 2. Case Report  A 3 year old male child was admitted to pediatric ward with cough, cold and breathlessness of 7 days duration.  Cough was productive, associated with breathlessness which was sudden in onset, progressed to grade 4.  There was history of recurrent respiratory tract infections.  At 7 months of age the child was diagnosed at a private hospital to have a congenital heart disease.  He was the first child born by LSCS to non- consanguinous couple.
  3. 3. What is Noonan Syndrome?  Noonan Syndrome (NS) is a relatively common congenital disease that affects both males and females equally.  This is an autosomal dominant disorder.  The history of NS begins with a woman named Dr. Jacqueline Noonan.  Dr. John Opitz proposed that Noonan’s Syndrome be given the name because Dr. Jackie Noonan was the first to recognize and describe the condition that occurred in both sexes.
  4. 4.  It used to be referred to as the male version of TURNER’S SYNDROME (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct.
  5. 5. Incidence  It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS.  It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome.  However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.
  6. 6. TYPES Based on the gene in which mutation has occurred, NS is of 5 types: 1. NS 1 – PTPN 11 – a gene on chromosome 12q24.1 which nc encodes pr otein tyrosine phosphatase SHP- 2. 2. NS 2 – Unknown (autosomal recessive) 3. NS 3 – KRAS 4. NS 4 – SOS 1 – a gene that positively regulates n Ras/MAP kinase Pathway. 5. NS 5 – RAF 1- less common type.
  7. 7. CLINICAL MANIFESTATIONS  The clinical features the child would have  Cardio-vascular System:  Pulmonary Valvular Stenosis Septal defects- Atrial and Ventricular Hypertrophic cardiomyopathy
  8. 8.  Gastro-Intestinal System :  Decreased appetite.  Frequent vomiting.  Failure to thrive.  Intestinal malrotation.
  9. 9.  Genito- Urinary System:  Cryptorchidism.  Lymphatic System:  Posterior Cervical Hygroma.  Lymphedema.
  10. 10.  Developmental :  Intellectual disability.  Clumsiness.  Motor developmental delay  Learning disabilities.  Autism,Pervasive developmental disorder can occur.
  11. 11.  Haematologic:  Easy bruising  Thrombocytopenia  Von- Willebrand Disease.  Prolonged Partial thromboplastin time  Partial deficiency of Factor VIII, XI, XII.  Platelet dysfunction.
  12. 12. Stature and posture: Short stature Cervical spine fusion Scoliosis Pectus Excavatum or Pectus Carinatum. Growth retardation Winging of Scapula Hypotonia Lordosis
  13. 13.  Head:  Large Head  Triangular face  Broad forehead  Short neck  Webbed neck  Curly Hair
  14. 14.  Eyes:  Hypertelorism  Ptosis  Epicanthal folds  Proptosis  Refractive errors  Strabismus  Nystagmus
  15. 15.  Ears:  Low Set ears  Backward rotated ears  Thick helix of ear  Incomplete folding of ears  Sensorineural deafness  Chronic Otitis Media
  16. 16.  Mouth and Speech:  Deeply grooved philtrum  Micrognathia  High arched palate  Dental problems  Poor tongue control
  17. 17.  Limbs  Bluntly ended fingers  Extra padding on fingers and toes  Edema of the back of hands and tops of feet  Cubitus valgus.
  18. 18.  Skin  Keloid formation  Hyperkeratosis  Pigmented Naevi  Connective tissue disesae

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