Roberts sendromu olgusu: Ultrasonografik özellikleri ve genetik tan›s›

A case of Roberts syndrome: its ultrasonographic characteristics and genetic diagnosis

Özet

Amaç: Roberts sendromu çok nadir bir genetik hastal›k olup otozomal resesif kal›t›m paternine sahiptir. 8. kromozomda yerleflen ESCO2 genindeki mutasyon sonucu geliflir. Çal›flmam›zda, 17. gebelik haftas›nda iskelet sistemi baflta olmak üzere multipl anomalilerin efllik etti¤i Roberts sendromu saptanan bir olguyu sunmay› amaçlad›k. Olgu: On yedinci gebelik haftas›nda rutin gebelik muayenesi için hastanemize baflvuran gebede yap›lan fetal ultrasonografik de¤erlendirmede fetüste bilateral üst ve alt ekstremitelerde anormallik, kontrakte bacaklar, bilateral yar›k damak-dudak, intrauterin büyüme k›s›tl›l›¤› ve kardiyak anomali saptand›. Bu ultrasonografik bulgularla ön planda Roberts sendromu düflünüldü. Sitogenetik ve moleküler analizlerle Roberts sendromu tan›s› do¤ruland›. Metafaz evresinde sentromerlerin erken ayr›flmas› ve sentromer yan›ndaki heterokromatik bölgelerin erken da¤›l›m› saptand›. Sitogenetik ve moleküler analizler ile fetüste ESCO2 geninde homozigot mutasyon ve ebeveynlerde ise heterozigot mutasyon belirlendi. Ebeveynler ile genetik konsültasyon sonras› gebeli¤in terminasyonuna karar verildi. Terminasyon sonras› fizik muayene bulgular› ile prenatal ultrasonografik bulgular benzer saptand›. Sonuç: Yirminci gebelik haftas› öncesinde ultrasonografik olarak birçok ciddi iskelet displazisine tan› konulabilir. Erken tan›, genetik konsültasyon olana¤›n›n yan› s›ra gebeli¤in devam› halinde do- ¤um aç›s›ndan ve postnatal dönemde t›bbi destek için gerekli tedbirlerin al›nmas›n› sa¤lar. E¤er iskelet displazisine yol açan genetik hastal›k tespit edilip ebeveynlerde bu genin tafl›y›c›l›¤› saptan›rsa hastal›¤›n tekrarlamas›n› engellenmek için preimplantasyon genetik tan› ile normal embriyolar elde edilerek sa¤l›kl› gebelikler oluflturulabilir.

Abstract

Objective: Roberts syndrome is a very rare genetic disease, and it has an autosomal recessive inheritance pattern. It develops as a result of the mutation in ESCO2 gene located in the 8th chromosome. In our study, we aimed to present a case which was found to have Roberts syndrome coexisting with multiple anomalies, particularly skeletal system anomaly, in the 17 weeks of gestation. Case: In the fetal ultrasonographic evaluation performed on the pregnant women who referred to our hospital for routine gestational examination in the 17 weeks of gestation, anomalies in the bilateral upper and lower extremities, contracted legs, bilateral cleft palate and lip, intrauterine growth restriction and cardiac anomaly were found in the fetus. Roberts syndrome was considered first with these ultrasonographic findings. The diagnosis of Roberts syndrome was confirmed by cytogenetic and molecular analyses. Early segregation of centromeres and early breaking up of heterochromatic regions near centromeres were found at metaphase stage. By cytogenetic and molecular analyses, homozygous mutation in ESCO2 gene of the fetus and heterozygous mutation in the parents were found. The termination of pregnancy was decided after the genetic consultation with the parents. Physical examination findings and prenatal ultrasound findings after termination were found similar. Conclusion: Many severe skeletal dysplasia cases can be diagnosed ultrasonographically before 20 weeks of gestation. Early diagnosis ensures to take necessary actions for medical support during postnatal period and in terms of labor if pregnancy continues as well as genetic consultation opportunity. If the genetic disease that causes skeletal dysplasia can be identified and parents are found to have this gene, healthy pregnancies can be achieved by obtaining normal embryos via pre-implantation genetic diagnosis in order to prevent the relapse of the disease.