Abstract
Yarık el/ayak malformasyonu (split
hand/foot malformation, SHFM) veya ektrodaktili; median apikal ektodermal
kabartı aktivitesindeki bozulma nedeniyle el ve ayaklarda oluşan santral ışın
defekti ile karakterizedir. Etkilenen ekstremitede medial yarıklar, sindaktili
ve falanks, metakarp ve metatarslarda hipoplazi ve/veya aplazi ile kendini
gösterir. İzole bir anomali olabileceği gibi çeşitli anomalilerle birliktelik
gösterek bir sendromun parçası olabilir. Bu makalede 27 haftada kliniğimizde
tanısını koyduğumuz dört ekstremitede de ektrodaktili saptanan, ek anomali
tespit edilmeyen ve kromozomal array analizinde patoloji saptanmayan ancak dört
ekstremitede de ciddi derecede malformasyon saptanmış olması nedeniyle tıbbi
genetik bilim dalı ile konsülte edilerek
ailenin onayı ile gebelik
terminasyonu uyguladığımız olgumuzu sunduk. Bu olgu nedeniyle fetüsün
ultrasonografik muayenesinde ekstremitelerin değerlendirilmesinin önemini ve
bir patoloji saptandığında ek anomaliler açısından fetüsün tüm sistemlerinin
ayrıntılı muayenesinin yapılmasını ve ailelere danışmanlık verilirken
multidispliner yaklaşımın öneminin vurgulanmasını amaçladık.
References
- 1. Duijf PH, Van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 2003;12(Spec No 1):51-60.
- 2. Winter RM, Baraitser M. Oxford Medical Databases: Dysmorphology. 1996
- 3.Czeizel AE, Vitez M, Kodaj I, Lenz W. An epidemiological study of isolated split hand/foot in Hungary, 1975-1984. J Med Genet 1993; 30: 593-596
- 4. Gul D, Oktenli C. Evidence for autosomal recessive inheritince of split hand/foot malformation: a report of nine cases. Clin Dysmorphol. 2002;11: 183-186
- 5. Ahmad M, Abbas H, Haque S, Flatz G. X chromosomally inherited split hand/foot anomaly in a Pakistani kindred. Hum Genet. 1987;75: 169-173
- 6. Zlotogora J. On the inheritance of the split hand /foot malformation. Am J Med Genet. 1994; 53: 29-32
- 7. Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM. Charecterization of split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet 1996; 5: 571-579
- 8. Wang X et al. 2014 Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. Eur. J. Hum. Genet. 22, 1105 – 1110. (doi:10.1038/ejhg.2014.7)
- 9. Tackels-Horne D, Toburen A, Sangiorgi E, Gurrieri F. et al. Split hand/split foot malformation with hearing loss: first report of families linked to SHFM1 locus in 7q21. Clin. Genet. 2001; 59: 28-36
- 10. Celli J, Dujif P, Hamel B, Bamshad M, Kramer B, Smith A et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. 1999; 99:143-153
- 11. Kasmann B, Ruprecht KW. Ocular manifestations in a father and son with EEC syndrome. Graefes Arch Clin Exp Ophthalmol. 1997;235:512–6.
- 12. Ianakiev P, Kilpatrick M, W Toudjarska I, Basel D, Beighton P, Tsipouras P. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am. J. Hum. Genet. 2000; 67: 59-66
- 13. Rios L, Junior E, Caetano A, Nardozzo L, Moron A, Martins M. Prenatal diagnosis of EEC syndrome with ‘’lobster claw’’ anomaly by 3D Ultrasound. J Clin Imaging Sci. 2012; 2: 40.
- 14. Allen LM, Maestri MJ. Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome. J Ultrasound Med. 2008;27:149–54
- 15. Haak M, Cobben J, Vugt J. First trimester diagnosis of split hand/split-foot by transvaginal ultrasound. Fetal Diagn Ther 2001; 16:146-149
- 16. Blitz M, Rochelson B. Prenatal diagnosis of ectrodactyly in the first trimester by three-dimensional ultrasonography. Am J Perinatol Rep. 2016; 6:142-144
Abstract
Split hand/foot malformation (SHFM) also
known ectrodactyly is a rare orthopaedic malformation which is characterised by
the deficiency or absence of one or more central digits of the hand or foot.
The associated anomalies are median
cleft, syndactyly or aplasia/hypoplasia of the phalanges, metacarpals and
metatarsals of hands or feet. It can be isolated or accompany a syndrome. İn
our case, we introduced prental diagnosis of isolated form of ectrodactyly in
both extremities. After genetic counselling we terminated the. In this report,
we aimed to explain the importance of multidiciplinary approach to extremity
anomalies.
References
- 1. Duijf PH, Van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 2003;12(Spec No 1):51-60.
- 2. Winter RM, Baraitser M. Oxford Medical Databases: Dysmorphology. 1996
- 3.Czeizel AE, Vitez M, Kodaj I, Lenz W. An epidemiological study of isolated split hand/foot in Hungary, 1975-1984. J Med Genet 1993; 30: 593-596
- 4. Gul D, Oktenli C. Evidence for autosomal recessive inheritince of split hand/foot malformation: a report of nine cases. Clin Dysmorphol. 2002;11: 183-186
- 5. Ahmad M, Abbas H, Haque S, Flatz G. X chromosomally inherited split hand/foot anomaly in a Pakistani kindred. Hum Genet. 1987;75: 169-173
- 6. Zlotogora J. On the inheritance of the split hand /foot malformation. Am J Med Genet. 1994; 53: 29-32
- 7. Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM. Charecterization of split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet 1996; 5: 571-579
- 8. Wang X et al. 2014 Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. Eur. J. Hum. Genet. 22, 1105 – 1110. (doi:10.1038/ejhg.2014.7)
- 9. Tackels-Horne D, Toburen A, Sangiorgi E, Gurrieri F. et al. Split hand/split foot malformation with hearing loss: first report of families linked to SHFM1 locus in 7q21. Clin. Genet. 2001; 59: 28-36
- 10. Celli J, Dujif P, Hamel B, Bamshad M, Kramer B, Smith A et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. 1999; 99:143-153
- 11. Kasmann B, Ruprecht KW. Ocular manifestations in a father and son with EEC syndrome. Graefes Arch Clin Exp Ophthalmol. 1997;235:512–6.
- 12. Ianakiev P, Kilpatrick M, W Toudjarska I, Basel D, Beighton P, Tsipouras P. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am. J. Hum. Genet. 2000; 67: 59-66
- 13. Rios L, Junior E, Caetano A, Nardozzo L, Moron A, Martins M. Prenatal diagnosis of EEC syndrome with ‘’lobster claw’’ anomaly by 3D Ultrasound. J Clin Imaging Sci. 2012; 2: 40.
- 14. Allen LM, Maestri MJ. Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome. J Ultrasound Med. 2008;27:149–54
- 15. Haak M, Cobben J, Vugt J. First trimester diagnosis of split hand/split-foot by transvaginal ultrasound. Fetal Diagn Ther 2001; 16:146-149
- 16. Blitz M, Rochelson B. Prenatal diagnosis of ectrodactyly in the first trimester by three-dimensional ultrasonography. Am J Perinatol Rep. 2016; 6:142-144
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | March 13, 2018 |
| Submission Date | January 4, 2018 |
| Published in Issue | Year 2018 |
Cite
Contact information and address
Addressi: İ.Ü. İstanbul Tıp Fakültesi Dekanlığı, Turgut Özal Cad. 34093 Çapa, Fatih, İstanbul, TÜRKİYE
Email: itfdergisi@istanbul.edu.tr
Phone: +90 212 414 21 61