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Fontaine progeroid syndrome-A case report

Sinéad Lally1, Nicola Walsh2, Janna Kenny2

  • 1Department of Paediatrics Cavan Monaghan Hospital, RCSI Hospital Group Cavan Ireland.

Clinical Case Reports
|September 12, 2022
PubMed

Insights

Fontaine progeroid syndrome (FPS) is a rare genetic disorder caused by SLC25A24 gene mutations. This report details the clinical journey of an infant patient with FPS, highlighting the condition's severe progression and early fatality.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatrics

Background:

  • Fontaine progeroid syndrome (FPS) is an autosomal dominant disorder.
  • Pathogenic variants in the SLC25A24 gene are identified as the cause of FPS.
  • Limited case studies exist, with some reporting early lethality.

Observation:

  • This study presents the comprehensive clinical course of a single patient diagnosed with Fontaine progeroid syndrome.
  • The patient's condition was monitored from birth until 7 months of age.
  • Detailed clinical observations throughout the patient's brief lifespan are discussed.

Findings:

  • The case illustrates the severe phenotype associated with Fontaine progeroid syndrome.
  • Early lethality was observed in this patient, consistent with some literature reports.
  • The SLC25A24 gene variants contribute to a rapidly progressive and fatal condition.

Implications:

  • This case contributes to the limited understanding of Fontaine progeroid syndrome.
  • Further research into SLC25A24 gene function is warranted.
  • Understanding FPS progression can aid in supportive care and future therapeutic strategies.

Keywords:
Fontaine progeroid syndromeGorlin Chaudry—Moss SyndromeSLC25A24 geneanal prolapsebrachycephalycraniosynostosiscryptorchidismdeficient endochondral ossificationdelayed bone agehigh arched palatehypertrichosislarge anterior fontanellelaterally up slanting eyebrowslow bone densitymicrodontiamidface hypoplasiaoligodontiapoor skull ossificationprogeroid appearanceshort/absent distal phalanges of hands and feetsyndactylyumbilical herniawrinkled skin

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