Oligosymptomatic hypothyroidism presenting as apparent spondyloepiphyseal dysplasia

✍ Scribed by Wiedemann, Hans-Rudolf

• Book ID: 101446314
• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 79 KB
• Volume: 50
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320500420

✦ Synopsis

I have read with interest the recent paper by Eberle [1993]. She reported on a nearly 12-year-old boy with short stature, dysplastic epiphyses, and vertebral abnormalities who was initially thought to have spondyloepiphyseal dysplasia and was subsequently found to have epiphyseal dysgenesis and flattening of the vertebral bodies secondary to congenital hypothyroidism.

This was a typical case of oligosymptomatic congenital hypothyroidism [Oldigs et al., 1981; Dessart et al., 19831, a form with delayed onset and mainly skeletal manifestations, and variably severe, for the most part proportional, short stature, quite pronounced muscle contours and a waddling gait as the principal clinical signs. Mental development may seem normal; skin and hair may be quite unremarkable; obesity, constipation, etc. may be completely absent; and the conventional