Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report

Sujayendra Kulkarni; Ashwini H.; Ashalata Mallapur; Yasmeen Maniyar

doi:doi:10.11648/j.ajp.20210703.17

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Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report

Sujayendra Kulkarni, Ashwini H., Ashalata Mallapur, Yasmeen Maniyar

Published in American Journal of Pediatrics (Volume 7, Issue 3)

Received: 14 June 2021 Accepted: 12 July 2021 Published: 27 July 2021

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Abstract

Cryptophthalmos syndrome or Fraser syndrome is a rare autosomal recessive disorder, characterized by major features such as cryptophthalmos, cutaneous syndactyly, malformation of the larynx, abnormal genitalia, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. It is inherited in an autosomal recessive pattern where both the parents must be possessing one defective allele for Fraser syndrome. Since both the parents are carriers for the Fraser syndrome, there is a chance for 25% of their children being affected, 50% of their children to be carriers and 25% of their children to be normal. A 22 year old pregnant woman with a family history of third degree consanguineous marriage was diagnosed to have a fetus with many of the above findings in her anomaly scan which was done to manage child birth and as it is crucial to get prenatal diagnosis early in the pregnancy. Parents decided to terminate the pregnancy. Soon after the abortus was expelled, cord blood was collected and subjected to Karyotype test. Karyotype analysis revealed the absence of a short sequence on chromosome number 4 in q arm at 4q21 region, which may be responsible for the above mentioned deformities. Due to the high morbidity and mortality associated with Fraser syndrome, early detection by amniotic fluid karyotyping may be helpful in early intervention.

Published in	American Journal of Pediatrics (Volume 7, Issue 3)
DOI	10.11648/j.ajp.20210703.17
Page(s)	126-129
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Cryptophthalmos Syndrome, Fraser Syndrome, Syndactyly

References

[1]	Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: A review of the diagnostic criteria and evidence of phenotypic modules. Journal of Medical Genetics; 2002; 39: 623-33.
[2]	Khoury E, Golalipour MJ, Haidary K, Adidi B. Fraser or cryptophthalmos syndrome: A case report. Archives of Iranian Medicine 2004; 7: 307-9.
[3]	Francannet C, Lefrançois P, Dechelotte P, Robert E, Malpuech G, Robert JM. Fraser syndrome with renal agenesis in two consanguineous Turkish families. American Journal of Medical Genetics 1990; 36 (4): 477–479.
[4]	Van Haelst MM, Scambler PJ, Hennekam RC. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria. American Journal of Medical Genetics 2007; 143A (24): 3194–203. doi: 10.1002/ajmg.a.31951. PMID 18000968.
[5]	Kalpana Kumari MK, Kamath S, Mysorekar VV, Nandini G. Fraser syndrome. Indian Journal of Pathology and Microbiology 2008; 51 (2): 228–9. doi: 10.4103/0377-4929.41664.
[6]	Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jonen MC. Isolated and syndromic cryptophthalmos. Am J Med Genet 1986; 25: 85-90.
[7]	Narang M, Kumar M, Shah D. Fraser-cryptophthalmos syndrome with colonic atresia. Indian Journal of Pediatrics. 2008; 75: 189–91.
[8]	McGregor L, Makela V, Darling SM. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nature Genetics 2003; 34: 203–8.
[9]	Jadeja S, Smyth I, Pitera JE. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nature Genetics 2015; 37: 520–525.
[10]	Chanze D. Fraser syndrome due to mutations in GRIP1. A clinical phenotype in two families and expansion of the mutation spectrum. American Journal of Medical Genetics 2014; 164: 837–840.
[11]	Petrou P, Makrygiannis AK, Chalepakis G. The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype. Connect Tissue Res. 2008; 49 (3): 277-82.
[12]	Berg C, Geipel A, Germer U. Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature. Ultrasound Obstet Gynecol. 2001; 18: 76–80.
[13]	Pe’er J, BenEzra D, Sela M, Hemo I. Cryptophthalmos syndrome. Clinical and histopathological findings. Ophthalmic Paediatric Genetics; 1987; 8: 177-82.
[14]	Koenig R, Sprancer J. Cryptophthalmos - syndactyly syndrome without cryptophthalmos. Clinical Genetics 1986; 29: 413-416.
[15]	Ramsing M, Rehder H, Holgreve W, Meinecke P, Lenz W. Fraser syndrome with Cryptophthalmos and syndactyly in the fetus and newborn. Clinical Genetics 1990; 37: 84-96.

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APA Style

Sujayendra Kulkarni, Ashwini H., Ashalata Mallapur, Yasmeen Maniyar. (2021). Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report. American Journal of Pediatrics, 7(3), 126-129. https://doi.org/10.11648/j.ajp.20210703.17

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ACS Style

Sujayendra Kulkarni; Ashwini H.; Ashalata Mallapur; Yasmeen Maniyar. Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report. Am. J. Pediatr. 2021, 7(3), 126-129. doi: 10.11648/j.ajp.20210703.17

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AMA Style

Sujayendra Kulkarni, Ashwini H., Ashalata Mallapur, Yasmeen Maniyar. Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report. Am J Pediatr. 2021;7(3):126-129. doi: 10.11648/j.ajp.20210703.17

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@article{10.11648/j.ajp.20210703.17,
  author = {Sujayendra Kulkarni and Ashwini H. and Ashalata Mallapur and Yasmeen Maniyar},
  title = {Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report},
  journal = {American Journal of Pediatrics},
  volume = {7},
  number = {3},
  pages = {126-129},
  doi = {10.11648/j.ajp.20210703.17},
  url = {https://doi.org/10.11648/j.ajp.20210703.17},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20210703.17},
  abstract = {Cryptophthalmos syndrome or Fraser syndrome is a rare autosomal recessive disorder, characterized by major features such as cryptophthalmos, cutaneous syndactyly, malformation of the larynx, abnormal genitalia, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. It is inherited in an autosomal recessive pattern where both the parents must be possessing one defective allele for Fraser syndrome. Since both the parents are carriers for the Fraser syndrome, there is a chance for 25% of their children being affected, 50% of their children to be carriers and 25% of their children to be normal. A 22 year old pregnant woman with a family history of third degree consanguineous marriage was diagnosed to have a fetus with many of the above findings in her anomaly scan which was done to manage child birth and as it is crucial to get prenatal diagnosis early in the pregnancy. Parents decided to terminate the pregnancy. Soon after the abortus was expelled, cord blood was collected and subjected to Karyotype test. Karyotype analysis revealed the absence of a short sequence on chromosome number 4 in q arm at 4q21 region, which may be responsible for the above mentioned deformities. Due to the high morbidity and mortality associated with Fraser syndrome, early detection by amniotic fluid karyotyping may be helpful in early intervention.},
 year = {2021}
}

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TY  - JOUR
T1  - Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report
AU  - Sujayendra Kulkarni
AU  - Ashwini H.
AU  - Ashalata Mallapur
AU  - Yasmeen Maniyar
Y1  - 2021/07/27
PY  - 2021
N1  - https://doi.org/10.11648/j.ajp.20210703.17
DO  - 10.11648/j.ajp.20210703.17
T2  - American Journal of Pediatrics
JF  - American Journal of Pediatrics
JO  - American Journal of Pediatrics
SP  - 126
EP  - 129
PB  - Science Publishing Group
SN  - 2472-0909
UR  - https://doi.org/10.11648/j.ajp.20210703.17
AB  - Cryptophthalmos syndrome or Fraser syndrome is a rare autosomal recessive disorder, characterized by major features such as cryptophthalmos, cutaneous syndactyly, malformation of the larynx, abnormal genitalia, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. It is inherited in an autosomal recessive pattern where both the parents must be possessing one defective allele for Fraser syndrome. Since both the parents are carriers for the Fraser syndrome, there is a chance for 25% of their children being affected, 50% of their children to be carriers and 25% of their children to be normal. A 22 year old pregnant woman with a family history of third degree consanguineous marriage was diagnosed to have a fetus with many of the above findings in her anomaly scan which was done to manage child birth and as it is crucial to get prenatal diagnosis early in the pregnancy. Parents decided to terminate the pregnancy. Soon after the abortus was expelled, cord blood was collected and subjected to Karyotype test. Karyotype analysis revealed the absence of a short sequence on chromosome number 4 in q arm at 4q21 region, which may be responsible for the above mentioned deformities. Due to the high morbidity and mortality associated with Fraser syndrome, early detection by amniotic fluid karyotyping may be helpful in early intervention.
VL  - 7
IS  - 3
ER  -

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Author Information

Sujayendra Kulkarni

Department of Central Research Laboratory (CRL) (Division of Human Genetics), S. Nijalingappa Medical College and Hangal Shree Kumareshwara Hospital & Research Center, Navanagar, Bagalkot, India
Ashwini H.

Department of Central Research Laboratory (CRL) (Division of Human Genetics), S. Nijalingappa Medical College and Hangal Shree Kumareshwara Hospital & Research Center, Navanagar, Bagalkot, India
Ashalata Mallapur

Department of Obstetrics and Gynecology, S. Nijalingappa Medical College and S. Nijalingappa Medical College and Hangal Shree Kumareshwara Hospital & Research Center, Navanagar, Bagalkot, India
Yasmeen Maniyar

Department of Pharmacology, S. Nijalingappa Medical College and S. Nijalingappa Medical College and Hangal shree Kumareshwara Hospital & Research Center, Navanagar, Bagalkot, India

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APA Style

Sujayendra Kulkarni, Ashwini H., Ashalata Mallapur, Yasmeen Maniyar. (2021). Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report. American Journal of Pediatrics, 7(3), 126-129. https://doi.org/10.11648/j.ajp.20210703.17

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ACS Style

Sujayendra Kulkarni; Ashwini H.; Ashalata Mallapur; Yasmeen Maniyar. Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report. Am. J. Pediatr. 2021, 7(3), 126-129. doi: 10.11648/j.ajp.20210703.17

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AMA Style

Sujayendra Kulkarni, Ashwini H., Ashalata Mallapur, Yasmeen Maniyar. Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report. Am J Pediatr. 2021;7(3):126-129. doi: 10.11648/j.ajp.20210703.17

Copy | Download

@article{10.11648/j.ajp.20210703.17,
  author = {Sujayendra Kulkarni and Ashwini H. and Ashalata Mallapur and Yasmeen Maniyar},
  title = {Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report},
  journal = {American Journal of Pediatrics},
  volume = {7},
  number = {3},
  pages = {126-129},
  doi = {10.11648/j.ajp.20210703.17},
  url = {https://doi.org/10.11648/j.ajp.20210703.17},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20210703.17},
  abstract = {Cryptophthalmos syndrome or Fraser syndrome is a rare autosomal recessive disorder, characterized by major features such as cryptophthalmos, cutaneous syndactyly, malformation of the larynx, abnormal genitalia, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. It is inherited in an autosomal recessive pattern where both the parents must be possessing one defective allele for Fraser syndrome. Since both the parents are carriers for the Fraser syndrome, there is a chance for 25% of their children being affected, 50% of their children to be carriers and 25% of their children to be normal. A 22 year old pregnant woman with a family history of third degree consanguineous marriage was diagnosed to have a fetus with many of the above findings in her anomaly scan which was done to manage child birth and as it is crucial to get prenatal diagnosis early in the pregnancy. Parents decided to terminate the pregnancy. Soon after the abortus was expelled, cord blood was collected and subjected to Karyotype test. Karyotype analysis revealed the absence of a short sequence on chromosome number 4 in q arm at 4q21 region, which may be responsible for the above mentioned deformities. Due to the high morbidity and mortality associated with Fraser syndrome, early detection by amniotic fluid karyotyping may be helpful in early intervention.},
 year = {2021}
}

Copy | Download

TY  - JOUR
T1  - Clinico- Radiologic and Genetic Study of Fraser Syndrome: A Case Report
AU  - Sujayendra Kulkarni
AU  - Ashwini H.
AU  - Ashalata Mallapur
AU  - Yasmeen Maniyar
Y1  - 2021/07/27
PY  - 2021
N1  - https://doi.org/10.11648/j.ajp.20210703.17
DO  - 10.11648/j.ajp.20210703.17
T2  - American Journal of Pediatrics
JF  - American Journal of Pediatrics
JO  - American Journal of Pediatrics
SP  - 126
EP  - 129
PB  - Science Publishing Group
SN  - 2472-0909
UR  - https://doi.org/10.11648/j.ajp.20210703.17
AB  - Cryptophthalmos syndrome or Fraser syndrome is a rare autosomal recessive disorder, characterized by major features such as cryptophthalmos, cutaneous syndactyly, malformation of the larynx, abnormal genitalia, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. It is inherited in an autosomal recessive pattern where both the parents must be possessing one defective allele for Fraser syndrome. Since both the parents are carriers for the Fraser syndrome, there is a chance for 25% of their children being affected, 50% of their children to be carriers and 25% of their children to be normal. A 22 year old pregnant woman with a family history of third degree consanguineous marriage was diagnosed to have a fetus with many of the above findings in her anomaly scan which was done to manage child birth and as it is crucial to get prenatal diagnosis early in the pregnancy. Parents decided to terminate the pregnancy. Soon after the abortus was expelled, cord blood was collected and subjected to Karyotype test. Karyotype analysis revealed the absence of a short sequence on chromosome number 4 in q arm at 4q21 region, which may be responsible for the above mentioned deformities. Due to the high morbidity and mortality associated with Fraser syndrome, early detection by amniotic fluid karyotyping may be helpful in early intervention.
VL  - 7
IS  - 3
ER  -

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