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2021, Number 3

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Rev Mex Pediatr 2021; 88 (3)

Pfeiffer syndrome type 2

Domínguez-Morales E, Aquino-Bonilla DC, Álvarez-Herbert F, Martínez-García H, Martínez-Hernández CM

Language: Spanish
References: 14
Page: 112-115
PDF size: 229.28 Kb.


ABSTRACT

Introduction: Pfeiffer syndrome is an autosomal dominant disorder with an incidence of 1 in 100,000 newborns, which is characterized by craniosynostosis, besides hand and foot malformations. Clinical case: 26-day-old female, daughter of first pregnancy; 18-year-old mother and 23-year-old father, without consanguinity or inbreeding. It was obtained at term. Physical examination: cloverleaf skull, wide anterior fontanelle, wide forehead, bitemporal narrowing, hypoplastic supraorbital arches, and bilateral ocular proptosis. Upper extremities: broad thumbs, bilateral fifth finger clinodactyly. Lower extremities: broad first toes, bilateral fifth toe clinodactyly. Skull CT scan: fusion of the lambdoid, sagittal, and coronal sutures, ventricular asymmetry, with decreased density of the brain parenchyma, and cerebellar hypoplasia. At 35 days of life the patient died. Conclusion: Clinical and prognostic spectrum of patients with Pfeiffer syndrome is wide and depends on the type of mutation in FGFR1 and FGFR2 genes. These patients require multidisciplinary management.


REFERENCES

  1. Ko JM. Genetic syndromes associated with craniosynostosis. J Korean Neurosurg Soc. 2016; 59(3): 187-91. doi: 10.3340/jkns.2016.59.3.187.

  2. Jay S, Wiberg A, Swan M, Lester T, Williams LJ, Taylor IB et al. The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself. Am J Med Genet A. 2013; 161A(5): 1158-1163. doi: 10.1002/ajmg.a.35842.

  3. Machado RA, Ferreira SB, Martins L, Ribero MM, Martelli DR, Coletta RD et al. A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome. Am J Med Genet A. 2017; 173(10): 2838-2843. doi: 10.1002/ajmg.a.38389.

  4. Amiji I, Kalezi ZE, Abdulshakoor A, Tarimo JF, Leiya R, Zuechner A et al. Pfeiffer syndrome type 2; a case report of cranio-orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania. Clin Case Rep. 2020; 8(9): 1613-1617. doi: 10.1002/ccr3.2959.

  5. Ben Hamouda H, Tlili Y, Ghanmi S, Soua H, Jerbi S, Souissi MM et al. Pfeiffer syndrome type II discovered perinatally: report of an observation and review of the literature. Diagn Interv Imaging. 2012; 93(10): 785-789. doi: 10.1016/j.diii.2012.06.002.

  6. Lee MY, Jeon GW, Jung JM, Sin JB. A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene. Korean J Pediatr. 2010; 53(7): 774-777. doi: 10.3345/kjp.2010.53.7.774.

  7. Júnior HM, de Aquino SN, Machado RA, Leão LL, Coletta RD, Burle-Aguiar MJ. Pfeiffer syndrome: clinical and genetic findings in five Brazilian families. Med Oral Patol Oral Cir Bucal. 2015; 20(1): e52-e58. doi: 10.4317/medoral.20032.

  8. Huertas-Tacchino E, La Serna-Infantes J, Alvarado-Merino R, Ingar-Pinedo J, Castillo-Urquiaga W, Zarate-Girao M et al. Síndrome de Pfeiffer tipo 2: diagnóstico prenatal. Reporte de caso y revisión de la literatura. Rev Peru Ginecol Obstet. 2019; 65(3): 361-366. doi: 10.31403/rpgo.v66i2196.

  9. Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H. Prenatal diagnosis of Pfeiffer syndrome patient with FGFR2 C.940-1G>C variant: a case report. Appl Clin Genet. 2020; 13: 147-150. doi: 10.2147/TACG.S251581.

  10. Azoury SC, Reddy S, Shukla V, Deng CX. Fibroblast growth factor receptor 2 (FGFR2) mutation related syndromic craniosynostosis. Int J Biol Sci. 2017; 13(12): 1479-1488. doi: 10.7150/ijbs.22373.

  11. Rai R, Iwanaga J, Dupont G, Oskouian RJ, Loukas M, Oakes WJ et al. Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology. Child Nerv Syst. 2019; 35(1): 1451-1455. doi: 10.1007/s00381-019-04082-7.

  12. Roldán-Arce J, Villarroel-Cortés C. Síndrome de Pfeiffer tipo 2. Informe de un caso y revisión de la literatura. Acta Pediatr Mex. 2013; 34(1): 43-47.

  13. Flöttmann R, Knaus A, Zemojtel T, Robinson PN, Mundlos S, Horn D et al. FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. Eur J Med Genet. 2015; 58(8): 376-380. doi: 10.1016/j.ejmg.2015.05.007.

  14. Pfeifer CM. Kleeblattschädel in Pfeiffer syndrome type II. Radiol Case Rep. 2020; 15(5): 474-478. doi: 10.1016/j.radcr.2020.01.034.




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