Nadir görülen letal iskelet displazisi: Roberts-SC fokomeli sendromu
Yükleniyor...
Tarih
2014
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Kanuni Sultan Süleyman Eğitim Araştırma Hastanesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amaç: Postpartum dönemde yapılan fizik muayene bulguları ve görüntüleme yöntemleriyle Roberts-SC sendromu
düşünülen bir olgunun sunumunu amaçladık.
Olgu Sunumu: Yirmi sekiz yaşında, G5P2 olan gebe hasta
dış merkezden polikliniğimize iskelet displazisi ön tanısıyla
refere edildi. Yapılan ileri düzey ultrasonografik (USG)
değerlendirmede fetusun ortalama 19 hafta ile uyumlu
olduğu, her iki üst ve alt ekstremitelerin proksimal ve distalinde ileri derecede kısalık (şiddetli mikromeli), vertebral
kemik yapılarda demiyelinizasyon, bilateral koroit pleksus
kistleri ve toraks ön-arka çapının azaldığı izlendi. Mevcut
bulgularla fetal letal iskelet displazisi düşünüldü. Anormal
USG bulguları nedeniyle aileye fetal kromozom analizi
önerildi, fakat kabul edilmedi ve gebeliğin devamı yönünde
karar alındı. Mükerrer sezaryen endikasyonuyla 2700 g, 42
cm boyunda, 3-4 APGAR skorlu bir kız bebek sezaryenle
doğurtuldu. Yenidoğan postpartum 24 saat içinde kaybedildi.
Sonuç: Roberts-SC fokomeli sendromu değişik klinik bulguların bir arada bulunduğu nadir görülen otozomal resesif (OR) kalıtım gösteren bir hastalıktır. Prenatal ultrasonografik değerlendirme ve sitogenetik incelemelerde erken
sentromer ayrılmasının bulunması diğer iskelet displazilerden ayrımını sağlayabilir. Hastalara sonraki gebeliklerinde fetal anomalinin erken tespiti ile genetik danışmanlık
hizmetinin verilmesi önem göstermektedir.
Objective: We aimed to present the case who was thought to have had Roberts-SC syndrome with postpartum physical examination and imaging findings. Case: A 28-year-old pregnant patient with gravida-5, parity-2 was referred to our clinic with the diagnosis of skeletal dysplasia. At advanced ultrasonographic examination, fetal development was at 19 weeks. There was severe shortness (micromelia) in both the upper and the lower parts of both upper and lower extremities, demineralisation in vertebral bony structures, bilateral choroid plexus cysts and decreased anteroposterior chest diameter. Lethal skeletal dysplasia was considered with the present findings. Due to the abnormal USG findings, fetal chromosome analysis was recommended but the family didn’t accept the test and decided to continue with the pregnancy. Due to the previous cesarian sections, repeat cesarian section was indicated and a 2700 gr, 42 cm baby girl was born with an Apgar score of 3-4. The newborn died within 24 hours. Conclusion: Roberts-SC phocomeia syndrome is a rare disorder with autosomal recessive inheritance and varying clinical findings. Early centromere separation on cytogenetic analysis and prenatal ultrasonography could help differentiate this entity from other skeletal dysplasias. Genetic counselling is important in order to be able to detect any possible fetal anomaly in future pregnancies.
Objective: We aimed to present the case who was thought to have had Roberts-SC syndrome with postpartum physical examination and imaging findings. Case: A 28-year-old pregnant patient with gravida-5, parity-2 was referred to our clinic with the diagnosis of skeletal dysplasia. At advanced ultrasonographic examination, fetal development was at 19 weeks. There was severe shortness (micromelia) in both the upper and the lower parts of both upper and lower extremities, demineralisation in vertebral bony structures, bilateral choroid plexus cysts and decreased anteroposterior chest diameter. Lethal skeletal dysplasia was considered with the present findings. Due to the abnormal USG findings, fetal chromosome analysis was recommended but the family didn’t accept the test and decided to continue with the pregnancy. Due to the previous cesarian sections, repeat cesarian section was indicated and a 2700 gr, 42 cm baby girl was born with an Apgar score of 3-4. The newborn died within 24 hours. Conclusion: Roberts-SC phocomeia syndrome is a rare disorder with autosomal recessive inheritance and varying clinical findings. Early centromere separation on cytogenetic analysis and prenatal ultrasonography could help differentiate this entity from other skeletal dysplasias. Genetic counselling is important in order to be able to detect any possible fetal anomaly in future pregnancies.
Açıklama
Anahtar Kelimeler
Roberts sendromu, Fokomeli, Fetal anomali, Prenatal tanı, Roberts syndrome, Phocomelia, Fetal anomalies, Prenatal diagnosis
Kaynak
İstanbul Kanuni Sultan Süleyman Tıp Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
6
Sayı
3
Künye
Başaranoğlu, S., Özler, A., Görük, N. Y., Tunç, S. Y., ve Ağaçayak, E. (2014). Nadir görülen letal iskelet displazisi: Roberts-SC fokomeli sendromu. İstanbul Kanuni Sultan Süleyman Tıp Dergisi, 6(3), 152-154.
