Andersen-Tawil syndrome physical examination

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Andersen-Tawil syndrome Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Differentiating Andersen-Tawil syndrome from other Diseases

Epidemiology and Demographics

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Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

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Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

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

HEENT

Findings may include:

Facial dysmorphia
Facial dysmorphia. The mouth is small(purple arrow), the ears have low implantation(yellow arrow) and the nose ridge is broad(blue arrow). Case courtesy by Stéphane Burtey et al[1]


Dental abnormalities
Dental abnormalities in patient with Andersen-Tawil syndrome. Case courtesy by Rui Fan et al[2]


Heart

Neuromuscular

Extremities

clinodactyly
Characteristic deformity of hand. A: patient's right fifth finger showing clinodactyly (arrow). B: patient mother's left fifth finger also showing clinodactyly (arrow). Case courtesy by Jung Yoon Pyo et al[11]


References

  1. "Hypokalaemia and dysmorphia, is there a link?".
  2. "Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report".
  3. Levitt, Lawrence P.; Rose, Leslie I.; Dawson, David M. (1972). "Hypokalemic Periodic Paralysis with Arrhythmia". New England Journal of Medicine. 286 (5): 253–254. doi:10.1056/NEJM197202032860507. ISSN 0028-4793.
  4. Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA; et al. (2018). "Review of the Diagnosis and Treatment of Periodic Paralysis". Muscle Nerve. 57 (4): 522–530. doi:10.1002/mus.26009. PMC 5867231. PMID 29125635.
  5. Cavel-Greant D, Lehmann-Horn F, Jurkat-Rott K (2012). "The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients". Acta Myol. 31 (2): 126–33. PMC 3476862. PMID 23097604.
  6. Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G; et al. (2012). "Measuring quality of life impairment in skeletal muscle channelopathies". Eur J Neurol. 19 (11): 1470–6. doi:10.1111/j.1468-1331.2012.03751.x. PMC 3492909. PMID 22607270.
  7. Modoni A, Bianchi ML, Vitulano N, Pagliarani S, Perna F, Sanna T; et al. (2011). "Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2". Cardiology. 120 (4): 200–3. doi:10.1159/000335529. PMID 22286118.
  8. Andersen ED, Krasilnikoff PA, Overvad H (1971). "Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?". Acta Paediatr Scand. 60 (5): 559–64. doi:10.1111/j.1651-2227.1971.tb06990.x. PMID 4106724.
  9. Nguyen HL, Pieper GH, Wilders R (2013). "Andersen-Tawil syndrome: clinical and molecular aspects". Int J Cardiol. 170 (1): 1–16. doi:10.1016/j.ijcard.2013.10.010. PMID 24383070.
  10. Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C; et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.
  11. "Ventricular Tachyarrhythmias in a Patient with Andersen-Tawil Syndrome".


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