Primer caso de displasia tanatofórica tipo 1 en la región central del Perú con variante patogénica en el gen FGFR3

Carlos Torres-Salinas; Yesenia Ledesma-Porras

doi:10.35434/rcmhnaaa.2023.162.1887

Authors

Carlos Torres-Salinas Facultad de Medicina Humana, Universidad Continental, Huancayo, Perú; Hospital Bicentenario, EsSalud. Jauja. Perú
Yesenia Ledesma-Porras Facultad de Medicina Humana, Universidad Continental, Huancayo, Perú; Hospital Nacional Ramiro Prialé, EsSalud. Huancayo, Perú

DOI:

https://doi.org/10.35434/rcmhnaaa.2023.162.1887

Keywords:

Skeletal dysplasia, thanatophoric dysplasia, fibroblast growth factor receptor type 3

Abstract

Introduction: Thanatophoric dysplasia type 1 is a form of lethal skeletal dysplasia, it is characterized by disproportions of the axial-appendicular skeleton in addition to short stature, macrocephaly, frontal prominence, narrow thorax, femoral bowing and micromelia. Case report: 38-week-old male neonate, born by elective cesarean section due to skeletal malformations and polyhydramnios. The clinical evolution showed progressive deterioration over time and despite the different oxygenatory and ventilatory support devices. Conclusions: For its study, obstetric ultrasound, physical examination and radiographic findings are important. However, the diagnosis must be confirmed through a genetic study in order to discover new variants or associations, as well as to make known their real case mix in a certain region.

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Author Biographies

Carlos Torres-Salinas, Facultad de Medicina Humana, Universidad Continental, Huancayo, Perú; Hospital Bicentenario, EsSalud. Jauja. Perú

1. Médico pediatra

Yesenia Ledesma-Porras , Facultad de Medicina Humana, Universidad Continental, Huancayo, Perú; Hospital Nacional Ramiro Prialé, EsSalud. Huancayo, Perú

1. Médico genetista

References

- French T, Savarirayan R. Thanatophoric Dysplasia. 2004 May 21 [updated 2020 Jun 18]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.

- Cavalcanti DP, Fano V, Mellado C, Lacarrubba-Flores MDJ, Silveira C, Silveira KC, Del Pino M, Moresco A, Caino S, Ramos Mejía R, García CJ, Lay-Son G, Ferreira CR. Skeletal dysplasias in Latin America. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):986-995. doi: 10.1002/ajmg.c.31861.

- Duarte S., Rocha M., Bidondo M., Liascovich R., Barbero P., Groisman. Bone displasias in 1.6 million births in Argentina. Eur J Med Genet. 2019 Dec;62(12):103603. doi: 10.1016/j.ejmg.2018.12.008.

- Wainwright H. Thanatophoric dysplasia: A review. S Afr Med J. 2016 May 25;106(6 Suppl 1):S50-3. doi: 10.7196/SAMJ.2016.v106i6.10993.

- Jimah BB, Mensah TA, Ulzen-Appiah K, Sarkodie BD, Anim DA, Amoako E, Gyamfi EA. Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature. Case Rep Obstet Gynecol. 2021 Apr 13;2021:9940063. doi: 10.1155/2021/9940063.

- Sahu S, Kaur P. Thanatophoric Dysplasia : Antenatal Diagnosis. Med J Armed Forces India. 2009 Jan;65(1):87-8. doi: 10.1016/S0377-1237(09)80071-3.

- Wang L, Takai Y, Baba K, Mikami Y, Saito M, Horiuchi I, Konno R, Takagi K, Seki H. Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements. Taiwan J Obstet Gynecol. 2017 Jun;56(3):374-378. doi: 10.1016/j.tjog.2017.04.021.

- Bondioni MP, Pazzaglia UE, Izzi C, Di Gaetano G, Laffranchi F, Baldi M, Prefumo F. Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. Radiol Med. 2017 Nov;122(11):880-891. doi: 10.1007/s11547-017-0784-0.

- Wang L, Takai Y, Baba K, Mikami Y, Saito M, Horiuchi I, Konno R, Takagi K, Seki H. Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements. Taiwan J Obstet Gynecol. 2017 Jun;56(3):374-378. doi: 10.1016/j.tjog.2017.04.021.

- Wang DC, Shannon P, Toi A, Chitayat D, Mohan U, Barkova E, Keating S, Tomlinson G, Glanc P. Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia. Ultrasound Obstet Gynecol. 2014 Nov;44(5):588-94. doi: 10.1002/uog.13337. Epub 2014 Oct 13.

- Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. Am J Med Genet A. 2003 Jul 15;120A(2):157-68. doi: 10.1002/ajmg.a.20012.

- Ea C, Hennocq Q, Picard A, Polak M, Collet C, Legeai-Mallet L, Arnaud É, Paternoster G, Khonsari RH. Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses. Bone Rep. 2022 Mar 26;16:101524. doi: 10.1016/j.bonr.2022.101524.