Trichorhinophalangeal syndrome (Langer-Giedion Syndrome)

Case contributed by Dr Hani Al Salam

Presentation

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

Patient Data

Gender: Female

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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Case Information

rID: 10590
Diagnostic certainty: Almost Certain
Tag: syndrome
Inclusion in quiz mode: Included

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