Presentation
Sparse scalp hair and eyebrows, and pear-shaped nose.
Patient Data
Age: Young child
Gender: Female
From the case:
Trichorhinophalangeal syndrome
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Cone-shaped epiphyses.
Flattened femoral head.
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.