Andersen-Tawil syndrome 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.
Extremities
- Periodic paralysis
- Clinodactyly may be present.