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Fetal echogenic bowel in association with Z ellweger syndrome
Author(s) -
Aydemir Ozge,
Kavurt Sumru,
Esin Sertaç,
Kandemir Omer,
Bas Ahmet Yagmur,
Demirel Nihal
Publication year - 2014
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/jog.12379
Subject(s) - medicine , echogenicity , fetus , gastroschisis , obstetrics , pathology , pregnancy , ultrasound , gastroenterology , radiology , genetics , biology
Increased echogenicity of fetal bowel in the second trimester obstetrical ultrasound has been described in association with several pathologic conditions, such as growth restriction, aneuploidy, cystic fibrosis, congenital infections, and gastrointestinal malformations. Z ellweger syndrome ( ZS ) is the prototype of peroxisomal disorders characterized by craniofacial dysmorphism and severe neurologic abnormalities. We report two cases with fetal echogenic bowel ( FEB ) but no associated anomalies and normal fetal growth. After birth, clinical and laboratory findings led to diagnosis of ZS . Association of FEB with neurometabolic disorders is limited to a few case reports in the medical literature. To the best of our knowledge, this is the first report of ZS associated with FEB .