Yıl: 2021 Cilt: 29 Sayı: 2 Sayfa Aralığı: 85 - 87 Metin Dili: İngilizce DOI: 10.5336/caserep.2020-80178 İndeks Tarihi: 14-05-2022

A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome

Öz:
Pena-Shokeir syndrome (PSS) type 1 is an autosomal recessive disease, characterized by arthrogryposis, facial anomalies, fetal growth restriction, polyhydramnios and pulmonary hypoplasia. Ultrasound features are varied and may overlap with those of trisomy 18. The neuromuscular abnormality of the diaphragm and intercostal muscles causes pulmonary hypoplasia, and consequently pulmonary hypoplasia is the primary cause of early death. PSS is a very rare syndrome and should be considered when indicators of the condition are encountered in fetal ultrasonic examination. It is important to perform an invasive procedure appropriate for the gestational week for the differential diagnosis of the condition. Our aim is to share the prenatal and postnatal process of the PSS case we diagnosed at 28 weeks of gestation.
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APA özalp m, Demir O, Osmanağaoğlu M (2021). A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome. , 85 - 87. 10.5336/caserep.2020-80178
Chicago özalp miraç,Demir Omer,Osmanağaoğlu Mehmet Armağan A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome. (2021): 85 - 87. 10.5336/caserep.2020-80178
MLA özalp miraç,Demir Omer,Osmanağaoğlu Mehmet Armağan A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome. , 2021, ss.85 - 87. 10.5336/caserep.2020-80178
AMA özalp m,Demir O,Osmanağaoğlu M A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome. . 2021; 85 - 87. 10.5336/caserep.2020-80178
Vancouver özalp m,Demir O,Osmanağaoğlu M A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome. . 2021; 85 - 87. 10.5336/caserep.2020-80178
IEEE özalp m,Demir O,Osmanağaoğlu M "A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome." , ss.85 - 87, 2021. 10.5336/caserep.2020-80178
ISNAD özalp, miraç vd. "A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome". (2021), 85-87. https://doi.org/10.5336/caserep.2020-80178
APA özalp m, Demir O, Osmanağaoğlu M (2021). A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome. Türkiye Klinikleri Journal of Case Reports, 29(2), 85 - 87. 10.5336/caserep.2020-80178
Chicago özalp miraç,Demir Omer,Osmanağaoğlu Mehmet Armağan A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome. Türkiye Klinikleri Journal of Case Reports 29, no.2 (2021): 85 - 87. 10.5336/caserep.2020-80178
MLA özalp miraç,Demir Omer,Osmanağaoğlu Mehmet Armağan A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome. Türkiye Klinikleri Journal of Case Reports, vol.29, no.2, 2021, ss.85 - 87. 10.5336/caserep.2020-80178
AMA özalp m,Demir O,Osmanağaoğlu M A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome. Türkiye Klinikleri Journal of Case Reports. 2021; 29(2): 85 - 87. 10.5336/caserep.2020-80178
Vancouver özalp m,Demir O,Osmanağaoğlu M A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome. Türkiye Klinikleri Journal of Case Reports. 2021; 29(2): 85 - 87. 10.5336/caserep.2020-80178
IEEE özalp m,Demir O,Osmanağaoğlu M "A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome." Türkiye Klinikleri Journal of Case Reports, 29, ss.85 - 87, 2021. 10.5336/caserep.2020-80178
ISNAD özalp, miraç vd. "A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome". Türkiye Klinikleri Journal of Case Reports 29/2 (2021), 85-87. https://doi.org/10.5336/caserep.2020-80178