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- Title
PP-14 Case report of a rare form of neural tube defect iniencephaly with diaphragmatic hernia.
- Authors
Emeklioglu, Cagdas Nurettin; Durak, Guldem; Ozalp, Mirac
- Abstract
Objective: Musculoskeletal anomalies and neurological anomalies are the most common causes of pregnancies terminated due to congenital anomalies.[1] Iniencephaly is a rare neural tube defect characterized by the absence of the neck and excessive retroflexion of the head due to spinal deformities .[2] Iniencephaly is seen with a variable deficiency of the occipital bones, resulting in an enlarged foramen magnum; partial or complete absence of cervical and thoracic vertebrae and uneven fusion of existing ones, accompanied by uneven closure of the vertebral arches and trunks; marked shortening of the spine due to marked lordosis and hyperextension of the malformed cervicothoracic spine; It is characterized by an upturned face and chin skin that continues directly with the chest due to the absence of neck.[2] Although the etiology is not clearly known, it has been stated that genetic and environmental factors are effective in the formation of infection were negative. The patient's NIPT test result, which was performed at an external center at the 15th week of pregnancy due to maternal anxiety, was normal karyotype. Fetal Magnetic Resonance (MR) imaging result was reported as consistent with dacryocystocele. The pregnancy of the patient continues at 38 weeks and she is followed up by our clinic. There is no change in lesion size and appearance. Conclusion: The canalization of the lacrimal duct begins around the 12th week and is not completed until the 24th week. Therefore, fetal ultrasound scans before 27 weeks of gestation are usually normal in these cases. Congenital dacryocystocele diagnosed prenatally may resolve spontaneously before birth. In rare cases, a dacryocytocele may be associated with other genetic or anatomical anomalies. It is important to rule out other causes of periorbital cystic lesions. Atypical cases may benefit from MRI. Although congenital dacryocystoceles are benign, newborns must breathe through the nose, and when the lesions are large and occur bilaterally, the obstruction may cause respiratory distress in the newborn. A better understanding of prenatal sonographic findings can help optimize perinatal care of potentially affected fetuses and appropriately orient their parents.
- Subjects
NEURAL tube defects; ANENCEPHALY; DIAPHRAGMATIC hernia; ABORTION; ULTRASONIC imaging
- Publication
Perinatal Journal, 2023, Vol 31, p21
- ISSN
1305-3124
- Publication type
Case Study
- DOI
10.59215/prn.23.031supp029