PMC9716017_01
Clinical feature of the family cases. (A) The craniofacial feature of proband (a), his sister with wig (b) and mother (c); (B) The skeletal abnormalities of proband (a), his sister (b) and mother (c).
fped-10-990230-g002.jpg
PMC9716017_02_fped-10-990230-g002.jpg
F2
She was almost bald and declined to take off her wig [Figure 2A(b)]. She also showed a skeletal malformation on second through fifth proximal phalanx on both feet [Figure 2B(b)]. The mother of the siblings, with a height of 140 cm (<3rd percentile), presented with sparse scalp hair and a nose with a bulbous tip [Figure 2A(c)]. She also showed bone abnormalities on her hands [Figure 2B(c)], but she declined further laboratory tests and radiological examinations.
PMC9716017_02
Clinical feature of the family cases. (A) The craniofacial feature of proband (a), his sister with wig (b) and mother (c); (B) The skeletal abnormalities of proband (a), his sister (b) and mother (c).
fped-10-990230-g002.jpg
PMC9716017_02_fped-10-990230-g002.jpg
F2
She was almost bald and declined to take off her wig [Figure 2A(b)]. She also showed a skeletal malformation on second through fifth proximal phalanx on both feet [Figure 2B(b)]. The mother of the siblings, with a height of 140 cm (<3rd percentile), presented with sparse scalp hair and a nose with a bulbous tip [Figure 2A(c)]. She also showed bone abnormalities on her hands [Figure 2B(c)], but she declined further laboratory tests and radiological examinations.