Cardinal features in neonates :

• Individual seeking reproductive counseling who have a family history of fragile X syndrome or a family history of undiagnosed mental retardation.
  
  
• Poor Moro reflex (85%)
  
  
• Hypotonia (80%)
• Flat facial profile (90%)
  
  
• Upslanted palpebral fissures (80%)
  
  
• Abnormal ears (60%)
  
  
• Excess skin on the back of neck (80%)
  
  
• Transverse palmar crease (45%)
  
  
• Hyperextensible joints (80%)
  
  
• Dysplasia of pelvis (70%)
  
  
• Fifth finger clinodactyly (60%)

Six or more of the above features should be present for making a diagnosis clinically. Sometimes the findings may be subtle and may be missed. Also the findings can be confounded by prematurity or ethnicity.

IMPORTANT STEPS AFTER SUSPECTING DOWN SYNDROME IN A NEONATE :

• Establish diagnosis
  
  
• Thorough clinical examination to observe for congenital heart disease or gastrointestinal malformation
  
  
• Inform the parents in a supportive way
  
  
• Laboratory orders:
  
  
  • Chromosomal karyotype
  • Thyroxine
  • TSH
  • Complete blood count
  • Differential count
  • Platelet count


• Nucleated RBC count
  
  
  • Echocardiography
  • Hearing screen
  • Funduscopy
  • Discuss diagnosis and management plan with parents
  • Refer parents to an infant intervention program and to a support group
  • Conduct a follow-up meeting with family

For further details see Down's syndrome
                           see Down's syndrome:-prenatal diagnosis

Last created on 23-02-2001
Last updated on 30-04-2007