Andersen-Tawil syndrome physical examination

Andersen-Tawil syndrome Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Charmaine Patel, M.D. [2]; Raviteja Guddeti, M.B.B.S. [3]

Overview

Patients with Andersen-Tawil syndrome usually appear shorter than normal. Physical examination of patients with Andersen-Tawil syndrome is usually remarkable for hypoplastic mandible, micrognathia, broad nose, low set ears and clinodactyly.

Physical Examination

Appearance of the Patient

• 

  Facial dysmorphia. The mouth is small, the ears have low implantation and the nose ridge is broad. Case courtesy by Stéphane Burtey et al

  Patients with Andersen-Tawil syndrome usually appear shorter than normal.

HEENT

Findings may include:

• Hypoplastic mandible or small mandible
• Micrognathia
• Low-set ears

• Hypertelorism (widely spaced eyes) may be noted on physical examination of the patients with Andersen-Tawil syndrome

Heart

• Palpitations.
• Syncope usally seen in first or second decade of the life of the patient
• Andersen-Tawil syndrome patients have a unique cardiac findings on ECG

Nose

• Broad nose may be seen

Ears

• Low set ears may be present

Neuromuscular

• Periodic paralysis:
  • The most important clinical manifestation of Andersen-Tawil syndrome patients is periodic paralysis
  • Periodic paralysis are episodic paralysis with flaccid muscle weakness
  • These periodic paralysis impairs quality of life of the patients with Andersen-Tawil syndrome
  • Triggers often may be due to change in behavior or diet, and also due to the fact that alterations in serum potassium levels.

• Muscle weakness:
  • In patients with Andersen-Tawil syndrome the muscle weakness occurs intermittently or spontaneously
  • Muscle weakness in patients with Andersen-Tawil syndrome may be occured due to prolonged rest or rest following exertion

• Neuromuscular examination of patients with [disease name] is usually normal.

OR

• Patient is usually oriented to persons, place, and time
• Altered mental status
• Glasgow coma scale is ___ / 15
• Clonus may be present
• Hyperreflexia / hyporeflexia / areflexia
• Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
• Muscle rigidity
• Proximal/distal muscle weakness unilaterally/bilaterally
• ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
• Unilateral/bilateral upper/lower extremity weakness

Extremities

• Clinodactyly:
  • Fifth-digit clinodactyly
  • Second and third toe syndactyly

References

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