Cleft Palate and Lip with Fetal Ehlers-Danlos Syndrome Type 4

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Kayıkçı U., Fadıloğlu E., Deren Ö.

14. Ulusal Türkiye Maternal Fetal Tıp ve Perinatoloji Derneği Kongresi , İstanbul, Türkiye, 24 - 26 Ekim 2024, ss.63

  • Yayın Türü: Bildiri / Özet Bildiri
  • Basıldığı Şehir: İstanbul
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.63
  • Hacettepe Üniversitesi Adresli: Evet

Özet

SB-24 Cleft Palate and Lip with Fetal Ehlers-Danlos Syndrome Type 4

Umutcan KAYIKCI, Erdem Fadiloglu, Özgür Deren

Hacettepe Üniversitesi Tıp Fakültesi, Kadın Hastalıkları ve Doğum Anabilim Dalı, Perinatoloji Biilim Dalı, Ankara


Fetal cleft lip and palate (CLP) is a congenital anomaly that can present as part of various genetic syndromes, including Ehlers-Danlos Syndrome (EDS) Type 4, also known as the vascular type. EDS Type 4 is characterized by defects in type III collagen synthesis, leading to tissue fragility, which can manifest in multiple systems, including the craniofacial region. The association of CLP with EDS Type 4 is less frequently documented but underscores the importance of thorough prenatal diagnosis when EDS is suspected. In this case, the patient was diagnosed as Ehlers-Danlos Syndrome Type 4, Autosomal Dominant (Vascular type EDS) with a diagnosis of bilateral cleft lip and palate and bilateral pes equinovarus in the 2nd trimester prenatal ultrasonography and heterozygous mutation in COL3A1 gene as a result of whole exon sequencing performed by cordocentesis and her pregnancy was terminated at 32 weeks with the family request and perinatology council recommendation. Prenatal ultrasonography, genetic examination and perinatology consultation are very important in the approach to anomalies with expected severe morbidity.


Anahtar Kelimeler: ehlers danlos syndrome, prenatal ultrasonography, genetic