nach oben

Erschienen in:

03.02.2024 | Original Article

Fraser syndrome with limb reduction defect: a rare and unique anatomic variation

verfasst von: Mishu Mangla, Ariyanachi Kaliappan, Annapurna Srirambhatla, Mrudula Chandrupatla, Rohini Motwani, Naina Kumar, Subhrajyoti Roy

Erschienen in: Surgical and Radiologic Anatomy | Ausgabe 4/2024

Einloggen, um Zugang zu erhalten

Abstract

Introduction

Fraser syndrome, named after George Fraser, is an autosomal recessive disorder showing a highly variable interfamilial phenotypic variation, with malformations ranging from minor symptoms to lethal anomalies like renal agenesis, incompatible with survival. Limb reduction defects have not been reported to be associated with it.

Case presentation

A 21-year-old primigravida presented to the antenatal outpatient department with a level two targeted anomaly scan report suggestive of severe oligohydramnios with suspected renal agenesis. The cranial vault bones were compressed, and orbital globes and lenses could not be visualized. Renal agenesis was confirmed due to sleeping adrenals sign, non-visualization of the urinary bladder, and Doppler of renal arteries. A detailed examination of the fetal head in the sagittal section showed the absence of an eye globe and lens, arousing suspicion of Fraser syndrome. After pregnancy termination, a complete fetal autopsy was done to look for any additional findings.

Conclusion

Patients who have a syndromic mix of acrofacial and urogenital abnormalities with or without cryptophthalmos should be evaluated for Fraser syndrome, which can be diagnosed by clinical examination and perinatal autopsy.

Kabra M, Gulati S, Ghosh M, Menon PS (2000) Fraser-cryptophthalmos syndrome. Indian J Pediatr 67(10):775–778. https://doi.org/10.1007/BF02723939CrossRefPubMed

Narang M, Kumar M, Shah D (2008) Fraser-cryptophthalmos syndrome with colonic atresia. Indian J Pediatr 75(2):189–191. https://doi.org/10.1007/s12098-008-0030-9CrossRefPubMed

Berg C, Geipel A, Germer U, Pertersen-Hansen A, Koch-Dörfler M, Gembruch U (2001) Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature. Ultrasound Obstet Gynecol 18(1):76–80. https://doi.org/10.1046/j.1469-0705.2001.00374.xCrossRefPubMed

Slavotinek AM, Tifft CJ (2002) Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet 39(9):623–633. https://doi.org/10.1136/jmg.39.9.623CrossRefPubMedPubMedCentral

Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC (1986) Isolated and syndromic cryptophthalmos. Am J Med Genet 25(1):85–98. https://doi.org/10.1002/ajmg.1320250111CrossRefPubMed

van Haelst, M. M., Scambler, P. J., Fraser Syndrome Collaboration Group, & Hennekam, R. C (2007) Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A 143A(24):3194–3203. https://doi.org/10.1002/ajmg.a.31951CrossRefPubMed

Ramsing M, Rehder H, Holzgreve W, Meinecke P, Lenz W (1990) Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. Clin Genet 37(2):84–96. https://doi.org/10.1111/j.1399-0004.1990.tb03484.xCrossRefPubMed

Tessier A, Sarreau M, Pelluard F, André G, Blesson S, Bucourt M, Dechelotte P, Faivre L, Frébourg T, Goldenberg A, Goua V, Jeanne-Pasquier C, Guimiot F, Laquerriere A, Laurent N, Lefebvre M, Loget P, Maréchaud M, Mechler C, Perez MJ, … Guerrot AM (2016) Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. Prenatal Diagn 36(13):1270–1275. https://doi.org/10.1002/pd.4971

Comstock JM, Putnam AR, Opitz JM, Pysher TJ, Szakacs J (2005) Prenatal death in Fraser syndrome. Fetal Pediatr Pathol 24(4–5):223–238. https://doi.org/10.1080/15227950500405353CrossRefPubMed

10.

Serville F, Carles D, Broussin B (1989) Fraser syndrome: prenatal ultrasonic detection. Am J Med Genet 32(4):561–563. https://doi.org/10.1002/ajmg.1320320435CrossRefPubMed

11.

Kalpana Kumari MK, Kamath S, Mysorekar VV, Nandini G (2008) Fraser syndrome. Indian J Pathol Microbiol 51(2):228–229. https://doi.org/10.4103/0377-4929.41664CrossRefPubMed

12.

Gattuso J, Patton MA, Baraitser M (1987) The clinical spectrum of the Fraser syndrome: report of three new cases and review. J Med Genet 24(9):549–555. https://doi.org/10.1136/jmg.24.9.549CrossRefPubMedPubMedCentral

13.

Allali B, Hamdani M, Lamari H, Rais L, Benhaddou M, Kettani A, Lahbil D, Amraoui A, Zaghloul K (2006) Syndrome de Fraser [Fraser syndrome. A case report]. J Franc D’ophtalmol 29(2):184–187. https://doi.org/10.1016/s0181-5512(06)73769-x

14.

Boyd PA, Keeling JW, Lindenbaum RH (1988) Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. Am J Med Genet 31(1):159–168. https://doi.org/10.1002/ajmg.1320310119CrossRefPubMed

15.

McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, … Scambler PJ (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 34(2):203–208. https://doi.org/10.1038/ng1142

16.

Pavlakis E, Chiotaki R, Chalepakis G (2011) The role of Fras1/Frem proteins in the structure and function of basement membrane. Int J Biochem Cell Biol 43(4):487–495. https://doi.org/10.1016/j.biocel.2010.12.016CrossRefPubMed

17.

Mbonda A, Endomba FT, Kanmounye US, Nkeck JR, Tochie JN (2019) Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report. BMC Pediatr 19(1):292. https://doi.org/10.1186/s12887-019-1673-6CrossRefPubMedPubMedCentral

18.

Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM (2012) Mutations in GRIP1 cause Fraser syndrome. J Med Genet 49(5):303–306. https://doi.org/10.1136/jmedgenet-2011-100590CrossRefPubMed

19.

Dumitru A, Costache M, Lazaroiu AM, Simion G, Secara D, Cirstoiu M, Emanoil A, Georgescu TA, Sajin M (2016) Fraser syndrome – a case report and review of literature. Maedica 11(1):80–83PubMedPubMedCentral

20.

Vijayaraghavan SB, Suma N, Lata S, Kamakshi K (2005) Prenatal sonographic appearance of cryptophthalmos in Fraser syndrome. Ultrasound Obstet Gynecol 25(6):629–630. https://doi.org/10.1002/uog.1905CrossRefPubMed

Titel: Fraser syndrome with limb reduction defect: a rare and unique anatomic variation
verfasst von: Mishu Mangla
Ariyanachi Kaliappan
Annapurna Srirambhatla
Mrudula Chandrupatla
Rohini Motwani
Naina Kumar
Subhrajyoti Roy
Publikationsdatum: 03.02.2024
Verlag: Springer Paris
Erschienen in: Surgical and Radiologic Anatomy / Ausgabe 4/2024
Print ISSN: 0930-1038
Elektronische ISSN: 1279-8517
DOI: https://doi.org/10.1007/s00276-024-03299-9

Update Radiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Fraser syndrome with limb reduction defect: a rare and unique anatomic variation