PMC1794225_01
The patient external features: long curly eyelashes, low front and back hairlines, turned-up nose, down-turned angles of the mouth and thin lips, long philtrum, small lower jaw and protruding upper jaw, microcephaly, excessive body hair, short neck.
1471-2431-7-6-1.jpg
PMC1794225_01_1471-2431-7-6-1.jpg
F1
She had low-pitched cry, short neck with limited movement, stiff muscle tone (unable to sit, she was still fisting), fixed flexion of both elbows, and she did not show any sign of speaking or babble (Fig. 1 and 2).
Close view of the patients facial features (a, b). The patient shows small broad hands with simian crease and proximal insertion of the thumb, and clinodactyly of the fifth finger (c, d).
1471-2431-7-6-2.jpg
PMC1794225_01_1471-2431-7-6-2.jpg
F2
She had low-pitched cry, short neck with limited movement, stiff muscle tone (unable to sit, she was still fisting), fixed flexion of both elbows, and she did not show any sign of speaking or babble (Fig. 1 and 2).