Fontaine progeroid 综合征 - 1 例报告。
关键词: Fontaine progeroid syndrome Gorlin Chaudry—Moss Syndrome SLC25A24 gene anal prolapse brachycephaly craniosynostosis cryptorchidism deficient endochondral ossification delayed bone age high arched palate hypertrichosis large anterior fontanelle laterally up slanting eyebrows low bone density microdontia midface hypoplasia oligodontia poor skull ossification progeroid appearance short/absent distal phalanges of hands and feet syndactyly umbilical hernia wrinkled skin Fontaine progeroid syndrome Gorlin Chaudry—Moss Syndrome SLC25A24 gene anal prolapse brachycephaly craniosynostosis cryptorchidism deficient endochondral ossification delayed bone age high arched palate hypertrichosis large anterior fontanelle laterally up slanting eyebrows low bone density microdontia midface hypoplasia oligodontia poor skull ossification progeroid appearance short/absent distal phalanges of hands and feet syndactyly umbilical hernia wrinkled skin
来 源:
DOI:10.1002/ccr3.6291
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