PMC6656857_01
Frontal (A) and lateral (B, C) view of the patient and her mother.
fgene-10-00650-g001.jpg
PMC6656857_01_fgene-10-00650-g001.jpg
f1
Physical examination at 34 years of age revealed long face (HP: 0000276) with high and narrow nasal bridge (HP: 0000426 and 0000446, respectively), beaked nose (HP: 0000444), high arched palate (HP: 0002705) and narrow mandible (HP: 0012801), prominent ears (HP: 0000411) with large and flat conchae (HP: 0000377), and long neck (HP: 0000472) with asymmetric downward sloped shoulders and clavicles (HP: 0200021 and 0000889, respectively) ( Figure 1 ). Her mother had similar phenotypic features: long face (HP: 0000276) with high and narrow nasal bridge (HP: 0000426 and 0000446, respectively), beaked nose (HP: 0000444), and downward sloping shoulders (HP: 0200021) ( Figure 1 ).
Frontal and lateral radiograph of the patient (A). Small, low, and laterally set scapulae with the glenohumeral joints lower than normal and down-turned clavicles are shown (B).
fgene-10-00650-g002.jpg
PMC6656857_01_fgene-10-00650-g002.jpg
f2
Chest radiograph demonstrated small, low, and laterally set scapulae (HP: 0000882 and HP: 0200021, respectively), with the glenohumeral joints 10 cm lower than normal (HP: 0200021) and down-turned clavicles (HP: 0000889) ( Figure 2 ).