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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
Summary

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.

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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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.