Bilateral multicystic renal dysplasia with potter sequence - A case with penile agenesis

Hereditary renal adysplasia (HRA) is a rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low-set ears, and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thick skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dysplasia, agenesis of both ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association, and Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis.

Dergi Adı SAUDI MEDICAL JOURNAL
Dergi Cilt Bilgisi 27
Dergi Sayısı 11
Sayfalar 1745 - 1747
Yayın Yılı 2006
Eser Adı
[dc.title]
Bilateral multicystic renal dysplasia with potter sequence - A case with penile agenesis
Yazar
[dc.contributor.author]
Dursun, Ahmet
Yazar
[dc.contributor.author]
Ermis, Bahri
Yazar
[dc.contributor.author]
Numanoğlu, Kemal Varın
Yazar
[dc.contributor.author]
Bahadır, Burak
Yazar
[dc.contributor.author]
Seçkiner, İlker
Yayın Yılı
[dc.date.issued]
2006
Yayıncı
[dc.publisher]
SAUDI MED J
Yayın Türü
[dc.type]
article
Özet
[dc.description.abstract]
Hereditary renal adysplasia (HRA) is a rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low-set ears, and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thick skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dysplasia, agenesis of both ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association, and Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis.
Açıklama
[dc.description]
WOS: 000243577200023
Açıklama
[dc.description]
PubMed: 17106555
Kayıt Giriş Tarihi
[dc.date.accessioned]
2019-12-23
Açık Erişim Tarihi
[dc.date.available]
2019-12-23
Yayın Dili
[dc.language.iso]
eng
Künye
[dc.identifier.citation]
Dursun, A., Ermis, B., Numanoğlu, K., Bahadir, B. ve Seckiner, I. (2006). Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis. Saudi medical journal, 27, 1745–1747.
Haklar
[dc.rights]
info:eu-repo/semantics/openAccess
ISSN
[dc.identifier.issn]
0379-5284
İlk Sayfa Sayısı
[dc.identifier.startpage]
1745
Son Sayfa Sayısı
[dc.identifier.endpage]
1747
Dergi Adı
[dc.relation.journal]
SAUDI MEDICAL JOURNAL
Dergi Sayısı
[dc.identifier.issue]
11
Dergi Cilt Bilgisi
[dc.identifier.volume]
27
Tek Biçim Adres
[dc.identifier.uri]
https://hdl.handle.net/20.500.12628/2153
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40
09.12.2022 tarihinden bu yana
İndirme
1
09.12.2022 tarihinden bu yana
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11 Nisan 2024 08:44
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Tıklayınız
agenesis anomalies including multicystic atresia choanal penile bilateral testicles single umbilical intraabdominal bladder Hereditary ureter dysplasia defect septal ventricular hypoplasia pulmonary revealed artery parents Coloboma diagnosis differential considered syndrome genital retardation anomaly association reported somite
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