Cretinism physical examination

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Cretinism Microchapters

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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: Ahmed Elsaiey, MBBCH [2]

Overview

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

Appearance of the Patient

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

Vital Signs

Skin

HEENT

Neck

Heart

Abdomen

A three month old infant with untreated CH; close up showing abdominal distension and umbilical hernia. Source:By Rastogi and LaFranchi; licensee BioMed Central Ltd. - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903524/figure/F1/, CC BY 2.5, https://commons.wikimedia.org/w/index.php?curid=30525459

Genitourinary

Neuromuscular

Extremities

References

  1. Law WY, Bradley DM, Lazarus JH, John R, Gregory JW (1998). "Congenital hypothyroidism in Wales (1982-1993): demographic features, clinical presentation and effects on early neurodevelopment". Clin Endocrinol (Oxf). 48 (2): 201–7. PMID 9579233.
  2. Anasti JN, Flack MR, Froehlich J, Nelson LM, Nisula BC (1995). "A potential novel mechanism for precocious puberty in juvenile hypothyroidism". J Clin Endocrinol Metab. 80 (1): 276–9. doi:10.1210/jcem.80.1.7829625. PMID 7829625.

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