A greig syndrome case diagnosed in one of the singleton of twin preterm who were obtained by assisted reproduction

Greig sefalopolisindaktili sendromu klinik olarak polisindaktili, makrosefali ve hipertelorizm triadı ile karakterize nadir multipl konjenital bir anomalidir. Genelde otozomal dominant kalıtımla karakterize olmasına rağmen, otozomal resesif geçiş paterni de vardır. Biz burada aile öyküsü olmaksızın Greig sendromu olduğundan şüphelenilen, yardımcı üreme tekniği ile olan çoğul gebelikten doğan bir yenidoğanı tartışmayı amaçladık. Yardımcı üreme tekniği ile ilişkili bizim bildiğimiz ilk vakadır.

Yardımcı üreme tekniği ile olan preterm ikiz eşinde tanımlanmış bir greig sendromu olgusu

Greig cephalopolysyndactyly is a rare multiple congenital anomaly characterized by clinical triad of polysyndactyly, macrocephalia and hypertelorism. In general, although it is characterized with autosomal dominant inheritance, there is also autosomal recessive inheritance pattern. Here, we aimed to discuss an infant who was born from multiple gestations arising from assisted reproduction techniques and suspected to be Greig syndrome with no familial history. Best of our knowledge this is the first case related with assisted reproduction technique.

___

  • 1. Biesecker LG. The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis 2008; 24:10.
  • 2. Balk K, Biesecker LG.The Clinical Atlas Of Greig Cephalopolysyndactly Syndrome. Am J Med Genet A 2008; 146: 548-57.
  • 3. Biesecker LG.What you can learn from one gene : GL13. J Med Genet 2006; 43: 465- 69.
  • 4. Winter RM, Huson SM. Greig Cephalopolysyndactly Syndrome: A possible mouse homologue (xt- extratoes). Am j Med. Genet 1998; 31:93-8
  • 5. Marafie MJ, Temtamy SA, Rajaram U, al- Awadi SA, el-Badramany MH, Farag TI. Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. Am j Med Genet 1996; 66: 261-64
  • 6. Wang CH, Tsai FJ, Shi YR. Greig Cephalopolysyndactly Syndrome in a family. Acta Paediatr Taiwan 2006; 447: 97-9.
  • 7. Kunze J, Kaufmann HJ (1985). Greig cephalopolysyndactyly syndrome. Report of a sporadic case. Helv Paediatr Acta 1985; 40:489- 95.
  • 8. Williams PG, Hersh JH, Yen FF, Barch MJ, Kleinert HE, Kunz J, Kalff-Suske M. Greig Cephalopolysyndactly Syndrome : Altered phenotype of a microdeletion syndrome due to presence of a cytogenetic abnormality. Clin Genet 1997; 52:436-41
  • 9. Biesecker LG. Polydactyly : How many disorders and how many genes ? Am J Med Genet 2002; 112: 279-283.
  • 10. Clementi E, Palka C, Lezzi L, Stuppia L, Franchi P, Tiboni G M. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for ART. Human Reprod 2005; 20:437-42.
  • 11. Buckett WM, Tan SL. Congenital abnormalities in children born after assisted reproductive techniques: how much is associated with the presence of infertility and how much with its treatment? Fertil Steril. 2005 Nov;84(5):1318-9
  • 12. Simpson JL. Registration of congenital anomalies in ART populations: pitfalls. Hum Reprod. 1996 Dec;11 Suppl 4:81-8.
  • 13. Nancy S. Green Risks of Birth Defects and Other Adverse Outcomes Associated With Assisted Reproductive Technology Pediatrics Vol. 114 No. 1 July 2004, pp. 256-259.
Ankara Üniversitesi Tıp Fakültesi Mecmuası-Cover
  • Başlangıç: 1947
  • Yayıncı: Erkan Mor
Sayıdaki Diğer Makaleler

Bulbus olfactorius, tractus olfactorius, sulcus olfactorius ve trigonum olfactorium morfometrisi: Anatomik çalışma

Ali Fırat ESMER, Alaittin ELHAN, Hasan Çağlar UĞUR, Ayhan CÖNERT, Ela CÖMERT, Tuna KARAHAN, İbrahim TEKDEMİR, Gökmen KAHİLOĞULLARI

A greig syndrome case diagnosed in one of the singleton of twin preterm who were obtained by assisted reproduction

Uğur DİLMEN, Nurdan URAŞ, Gonca SANDAL, Ömer ERDEVE, Şerife Suna OĞUZ

Üst ekstremite yerleşimli kistik higroma: Olgu sunumu

Ahmet Serdar KARACA, Volkan GENÇ, Gökhan ÇİPE, Atıl ÇAKMAK, Semih BASKAN

Genç sağlıklı erkekte dev mesane taşı: Olgu sunumu

Ural OĞUZ, Ali ÜNSAL, Cengiz KARA, Çağrı ŞENOCAK, Ömer Faruk BOZKURT

Informed consent in medical Education: The experience of the medical Ethics department of Ankara University Medical School

N. Yasemin OĞUZ, Serap ŞAHİNOĞLU, Berna ARDA

Orta serebral arterin önemli bir dalı; temporal arter: Anatomik çalışma

Alaittin ELHAN, Yücel KANPOLAT, Ayhan CÖMERT, Gökmen KAHİLOĞULLARI

Primer beyin tümörlerini evrelendirmesinde perfüzyon MRG’nin katkısı

İlhan ERDEN, Horolsüren ORGODOL

Importance of multislice cardiac computed tomography for the diagnosis and evaluation of silent ischemia and myocardial Infarction: Two cases.

Mustafa ÖZCAN, Kamil ADALET, Faruk ERZENGİN, Erhan TEKER, Güneş HÜSEYİNOVA, Derya BAYKIZ, Kıvanç YALIN

Normal biliary confluence angle in classical junction type: Assessment with MR cholangiopancreatography

İlhan ERDEN, Nuray HALİLOĞLU, Ayşe ERDEN

The relationships between the superior cerebellar artery and trochlear nerve

Tülin ŞEN, S. Tuna KARAHAN, Ali Fuat ESMER, Eray TÜCCAR