Andersen-Tawil syndrome physical examination

Andersen-Tawil syndrome Microchapters
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Physical Examination
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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 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

• Patients with Andersen-Tawil syndrome usually appear normal.

Head

Findings may include:

• Hypoplastic mandible
• Micrognathia

Eyes

• Hypertelorism may be noted on physical examination.

Heart

• Palpitations

Nose

• Broad nose may be seen.

Ears

• Low set ears may be present.

Neuromuscular

• 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

• Periodic paralysis

• Clinodactyly may be present.

References

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