[source]
pmid = PMID:23566664
title = A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome
[diagnosis]
disease_id = OMIM:102500
disease_label = Hajdu-Cheney syndrome
[text]
The affected individual has normal secondary sexual characteristics with no pregnancy history.
When she was 12 years old, her fingers and toes became shorter and broader. Because she did not feel any
pain, she did not go to see a doctor at that time. Since a compression fracture of lumbar spine one in 2007,
she has had severe lumbago and difficulty in walking. She came to our department in December 2008.

She was presented with a short stature of 152 cm. She had bushy eyebrows, and her hair was black and coarse.
She had a flat face, a large auricle, and a small lower jaw (Fig. 1a) Her fingers and toes were short and broad (Fig. 1b).
Her hearing was normal. On superficial examination, the teeth appear normal. Her intelligence was normal,
but a memory decline had been progressing during the last 5 years.
Radiographs showed osteoporosis of the hands and acro-osteolysis and soft tissue swelling at the proximal ends of the
distal phalanges of the fingers (Fig. 1c) and toes. There was osteoporosis of the spine, with compression fractures of
T4, T5, T7, T11 and L1 vertebrae.
Physical characteristics: her hair was black and coarse, and she had facial features characteristic of elderly individuals,
a broad nose, bushy eyebrows, a flat face, a large auricle and a small lower jaw (a);
her fingers were short and broad (b). Radiography features: osteoporosis of the hands,
osteolysis and soft tissue swelling at the proximal end of the distal phalanges of the fingers (c).