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   PDF(Pubmed)

Abstract：
Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.
摘要：
Fontaineprogeroid综合征（FPS）是由SLC25A24基因的致病变异引起的常染色体显性疾病。文献中描述了11例，有些人具有早期杀伤力。我们讨论了患者从出生到7个月死亡的临床过程。
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