Cretinism physical examination

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Overview[edit | edit source]

Patients with cretinism usually appear asymptomatic at the beginning of the disease. Physical examination of patients with cretinism is usually remarkable for jaundice, dry skin, large fontanelles, macroglossia, umbilical hernia, bradycardia, delayed puberty, and hypotonia.

Physical Examination[edit | edit source]

Appearance of the Patient[edit | edit source]

• Patients with cretinism usually appear asymptomatic at the beginning^[1]

Vital Signs[edit | edit source]

• Hypothermia

Skin[edit | edit source]

• Jaundice
• Pallor
• Dry skin

HEENT[edit | edit source]

• Large fontanelles
• Myxedema
• Coarse facial features
• Macroglossia

Neck[edit | edit source]

• Goiter

Heart[edit | edit source]

• Bradycardia
• Atrial and ventricular septal defects

Abdomen[edit | edit source]

• Umbilical hernia
• Abdominal distension

Genitourinary[edit | edit source]

• Delayed puberty in the children
• In severe cases, it can cause pseudo precocious puberty:^[2]
  • Enlarged breast in females
  • Enlarged testes in the males

Neuromuscular[edit | edit source]

• Delayed deep tendon reflexes
• Hypotonia
• Intellectual disability

Extremities[edit | edit source]

• Clubbing
• Cyanosis
• Edema

References[edit | edit source]

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