Bladder agenesis and bilateral ectopic ureters in an infant male with cystic renal dysplasia, imperforate anus, and penoscrotal transposition

Urology ◽  
2021 ◽  
Author(s):  
Danly Omil-Lima ◽  
Karishma Gupta ◽  
Megan Prunty ◽  
Eiichi A. Miyasaka ◽  
Emily L. Joyce ◽  
...  
Keyword(s):  
Imperforate Anus ◽  
Renal Dysplasia ◽  
Bladder Agenesis ◽  
Cystic Renal Dysplasia ◽  
Ectopic Ureters ◽  
Infant Male ◽  
Penoscrotal Transposition

scholarly journals A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs

PLoS ONE ◽  
2018 ◽  
Vol 13 (9) ◽  
pp. e0204073 ◽  
Author(s):  
Kati J. Dillard ◽  
Marjo K. Hytönen ◽  
Daniel Fischer ◽  
Kimmo Tanhuanpää ◽  
Mari S. Lehti ◽  
...  
Keyword(s):  
Hepatic Fibrosis ◽  
Splice Site ◽  
Renal Dysplasia ◽  
Cystic Renal Dysplasia ◽  
Splice Site Variant

scholarly journals A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition

2001 ◽  
Vol 42 (5) ◽  
pp. 558 ◽  
Author(s):  
Jae Lim Chung ◽  
Jong Rak Choi ◽  
Min Soo Park ◽  
Seung Hun Choi
Keyword(s):  
Imperforate Anus ◽  
Congenital Anomalies ◽  
Penoscrotal Transposition

Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants

2019 ◽  
Vol 23 (3) ◽  
pp. 235-239
Author(s):  
Sakil Kulkarni ◽  
Brooj Abro ◽  
Maria Laura Duque Lasio ◽  
Janis Stoll ◽  
Dorothy K Grange ◽  
...  
Keyword(s):  
Cardiac Failure ◽  
Renal Dysplasia ◽  
Cardiomyocyte Hypertrophy ◽  
Compound Heterozygous ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Genes Encoding ◽  
Cystic Renal Dysplasia ◽  
Cystic Renal Disease ◽  
Compound Heterozygous Variants

We report a term female infant born to nonconsanguineous parents who presented with renal failure at birth, hypothyroidism, cholestasis, and progressive cardiac dysfunction. Multigene next-generation sequencing panels for cholestasis, cardiomyopathy, and cystic renal disease did not reveal a unifying diagnosis. Whole exome sequencing revealed compound heterozygous pathogenic variants in ANKS6 (Ankyrin Repeat and Sterile Alpha Motif Domain Containing 6), which encodes a protein that interacts with other proteins of the Inv compartment of cilium ( NEK8, NPHP2/INVS, and NPHP3). ANKS6 has been shown to be important for early renal development and cardiac looping in animal models. Autopsy revealed cystic renal dysplasia and cardiomyocyte hypertrophy, disarray, and focal necrosis. Liver histology revealed cholestasis and centrilobular necrosis, which was likely a result of progressive cardiac failure. This is the first report of compound heterozygous variants in ANKS6 leading to a nephronopthisis-related ciliopathy-like phenotype. We conclude that pathogenic variants in ANKS6 may present early in life with severe renal and cardiac failure, similar to subjects with variants in genes encoding other proteins in the Inv compartment of the cilium.

Bladder agenesis and bilateral ectopic ureters draining into the vagina in a female infant: demonstrated by MR imaging

2011 ◽  
Vol 34 (1) ◽  
pp. 89-92 ◽  
Author(s):  
Chih-Yi Chen ◽  
Teng-Fu Tsao ◽  
Hung-Ming Chang ◽  
Sung-Lang Chen ◽  
Shan-Ming Chen ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Female Infant ◽  
Bladder Agenesis ◽  
Ectopic Ureters

Sacral ectopic phallus in a case of extreme penoscrotal transposition and bladder agenesis

2006 ◽  
Vol 2 (1) ◽  
pp. 55-58 ◽  
Author(s):  
David M. Rodin ◽  
Chester J. Koh ◽  
Alan B. Retik
Keyword(s):  
Bladder Agenesis ◽  
Penoscrotal Transposition

Variation in Major Pulmonary Fissures: Incidence in Fetal Postmortem Examinations and a Review of Significant Extrapulmonary Structural Abnormalities in Sixty Cases

1998 ◽  
Vol 1 (4) ◽  
pp. 289-294 ◽  
Author(s):  
A.W. Bates
Keyword(s):  
Pulmonary Hypoplasia ◽  
Chromosomal Abnormalities ◽  
Renal Dysplasia ◽  
Situs Inversus Totalis ◽  
Postmortem Examination ◽  
Structural Abnormalities ◽  
Appropriate For Gestational Age ◽  
Cystic Renal Dysplasia ◽  
Left Right Asymmetry ◽  
Postmortem Examinations

A retrospective study of 1513 fetal postmortem examination reports from 1967 to 1996 yielded 35 cases with anomalous major pulmonary fissures (2.3%), to which a further 25 cases were added from fetal postmortem examinations performed between 1929 and 1966. Of 60 cases with anomalous fissures, 43 had an absent right horizontal fissure and 8 had a supernumerary left horizontal fissure; the remaining 9 showed various patterns in which one lung lacked major fissures. Histological examination in 29 cases did not reveal any additional pulmonary abnormality and pulmonary maturity was appropriate for gestational age. Additional malformations were present in 40 cases and these were frequently multiple, the most common being central nervous system, cardiovascular, and genitourinary system defects; notable heart malformations (10 cases); hydrocephalus (5 cases); and cystic renal dysplasia (4 cases). Chromosomal abnormalities were demonstrated in six cases although this figure does not reflect their prevalence, as many cases predate the availability of karyotyping. In seven cases, including three with polysplenia syndrome and one with situs inversus totalis, there was evidence of an underlying abnormality of left–right asymmetry, and in 13 cases there was documented pulmonary hypoplasia.

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