Fontaine progeroid syndrome—A case report

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. We discuss a...

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Veröffentlicht in:	Clinical case reports 2022-09, Vol.10 (9), p.e6291-n/a
Hauptverfasser:	Lally, Sinéad, Walsh, Nicola, Kenny, Janna, Franklin, Orla, Cotter, Melanie, Richardson, Sarah, McEligott, Fiona, Finan, Alan
Format:	Artikel
Sprache:	eng
Schlagworte:	Abdomen anal prolapse brachycephaly Case Report Case reports Congenital diseases craniosynostosis cryptorchidism deficient endochondral ossification delayed bone age Ears & hearing Fibroblasts Fontaine progeroid syndrome Genotype & phenotype Gorlin Chaudry—Moss Syndrome high arched palate hypertrichosis Intensive care large anterior fontanelle laterally up slanting eyebrows low bone density microdontia midface hypoplasia Morphology oligodontia Patients Pediatrics Pneumothorax poor skull ossification progeroid appearance Pulmonary hypertension short/absent distal phalanges of hands and feet SLC25A24 gene Sutures syndactyly Ultrasonic imaging umbilical hernia wrinkled skin
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Zusammenfassung:	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. We discuss a patient with a confirmed diagnosis of Fontaine progeroid syndrome (FPS), comparing his phenotype with that of the previously reported cases.
ISSN:	2050-0904 2050-0904
DOI:	10.1002/ccr3.6291