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Diaphragmatic eventration (DE) associated with intestinal malrotation and renal agenesis is a rare entity. The authors report a case of a 69-year-old man who had symptoms of heart failure. He had a previous imaging diagnosis of right diaphragmatic eventration and dilated cardiomyopathy. He died on the second day after the hospital admission and had a post mortem examination that confirmed complete right diaphragmatic eventration, intestinal malrotation, left renal agenesis, dilated cardiomyopathy, and anteriorly rotated right kidney and had findings suggestive of a thoracoabdominal compartment syndrome. Thoracoabdominal compartment syndrome is described as transmission of abdominal pressure through a defective diaphragm causing compression of the hemithorax viscera and mediastinal shift with a hemodynamic alteration. The association of these anomalies is rare, and the possibility of this finding in a patient with eventration should always be considered.

Background: Herlyn-Werner-Wunderlich syndrome (HWWS) is an extremely rare Mullerian anomaly consisting of uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis. Although few HWWS cases had been reported in the gynecological literature, most of the reported cases were combined with single hematocolpos. Case: We report here on a case of HWWS with double hematocolpos on one side of a hemivagina combined with ipsilateral renal agenesis. This is the first report of HWWS with double hematocolpos on one side of a hemivagina that was successfully treated with the resection of the vaginal septum. Conclusion: It is important to understand the pathogenesis and clinical features of these anomalies for diagnosis.

Congenital uterine anomalies (CUA) may have major impacts on the health and social well‐being of affected individuals. Their expressivity is variable, with the most severe end of the spectrum being the absence of any fully or unilaterally developed uterus (aplastic uterus), which is a major feature in Mayer‐Rokitansky‐Kuster‐Hauser syndrome (MRKH). So far, etiologies of CUA remain largely unknown. As reports of familial occurrences argue for strong genetic contributors in some cases, we performed whole exome sequencing in nine multiplex families with recurrence of uterine and kidney malformations, a condition called hereditary urogenital adysplasia. Heterozygous likely causative variants in the gene GREB1L were identified in four of these families, confirming GREB1L as an important gene for proper uterine and kidney development. The apparent mode of inheritance was autosomal dominant with incomplete penetrance. The four families included fetuses with uterovaginal aplasia and bilateral renal agenesis, highlighting the importance to investigate GREB1L in such phenotypes. Subsequent sequencing of the gene in a cohort of 68 individuals with MRKH syndrome or uterine malformation (mostly sporadic cases) identified six additional variants of unknown significance. We therefore conclude that heterozygous GREB1L variants contribute to MRKH syndrome and this probably requires additional genetic or environmental factors for full penetrance. [ABSTRACT FROM AUTHOR]

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare, congenital genitourinary anomaly involving the Müllerian and Wolffian structures, and is characterized by the triad of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents in adolescent girls in whom hematometrocolpos produces a pronounced mass effect and pain on the side of the obstructed hemivagina. Accurate diagnosis and surgical treatment can be delayed for several months or even years. Here, we report a case of a 12-year-old girl who presented to the emergency department with lower abdominal pain and mass that had lasted for 2 weeks. After the confirmation of HWW syndrome with magnetic resonance imaging, hysteroscopic septostomy was carried out as a definitive treatment. When we evaluate adolescent girls with lower abdominal pain and mass, we should consider the possibility of HWW syndrome.

Klippel-Feil's Syndrome (KFS) is a congenital malformation which is characterized by insufficient segmentation of two or more vertebrae. Low hair line, short neck and restriction of neck motions form classical triad of the disease. KFS may be accompanied by skeletal system and urogenital system anomalies, hearing loss and congenital heart disease. In this case, we report a 38-year-old male patient who has brachial plexus injury associated with type 1 KFS. Patient was admitted to our outpatient clinic with complaints of neck pain and restriction of neck motions, and further examinations revealed fusion in C2-C6 and C7-T4 vertebrae, butterfly vertebra anomaly of C7 vertebral body and unilateral renal agenesis. [ABSTRACT FROM AUTHOR]

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder of still unknown etiology, characterized by uterovaginal agenesis and can be associated with renal, skeletal and cardiac malformations. Most cases are sporadic. We report on a familial case of two female cousins with MRKH syndrome and unilateral renal agenesis. Family history revealed two cases of renal agenesis in male relatives and ultrasonographic (US) examination of healthy relatives diagnosed an uncle with multiple renal cysts. We have reviewed the literature on familial occurrence of MRKH syndrome and its associated anomalies and collected a total of 67 familial cases. We found familial cases to share the same associated anomalies as sporadic cases and we discuss the necessity of US examination of healthy relatives. © 2014 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Purpose: While compensatory hypertrophy is expected in solitary kidneys, the definition of appropriate hypertrophy remains unclear. The normal renal growth rate in children age 1 to 18 years with 2 kidneys has been defined as 0.28 × age (years) + 6.1. Solitary kidneys appear to grow faster and larger and, thus, require a separate growth curve. Materials and Methods: The records of all patients 18 years old or younger with solitary functioning kidneys were reviewed from 2001 to 2011. Exclusion criteria were greater than SFU (Society for Fetal Urology) grade 2 hydronephrosis, posterior urethral valves, vesicoureteral reflux or any ipsilateral obstruction. Ordinary least squares regression modeled the renal length as a function of age by using only the initial sonogram per subject. The distribution of mean kidney length by age was plotted and compared to published normal values. Results: A total of 91 subjects were included in the study. Patients were evenly split by laterality and gender. Multicystic dysplastic kidney comprised 34% and solitary kidneys 66% of subjects. Of these subjects 55% underwent their first sonogram at younger than 1 year old. There were 61 subjects with multiple sonograms but the initial 91 were included in the study. Age was a better predictor of renal length for subjects age 1 year or older (r2 = 0.7312) than for those younger than 1 year old (r2 = 0.6138). For children age 1 to 18 years we used the equation, length = 0.38 × age + 7.2. Solitary kidney values were approximately 2 standard deviations greater than normal values. Conclusions: The equation 0.4 × age (years) + 7 can be used to accurately estimate expected renal length in children (age 1 to 18 years) with solitary kidneys and can be used as a quick reference to evaluate for renal compensatory hypertrophy. [Copyright &y& Elsevier]