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Trichorhinophalangeal syndrome (Langer-Giedion Syndrome)

Case contributed by: Dr Hani Salam

Presentation:

A young female patient with sparse scalp hair and eyebrows, pear-shaped nose

Case Discussion:

Patient with clinical diagnosis of trichorhinophalangeal syndrome type II (Langer-Giedion syndrome), skeletal survey showed cone-shaped epiphyses in the digits of the hands and feet, and flattened femoral heads bilaterally more on the right.

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