Aplasia of the pubic bone associated with congenital hip dislocation is rare. Various dysmorphic conditions featuring absence or hypoplasia of the ischiopubic bone, associated with congenital hip dislocation, have been distinguished in the literature. We report the case of an 18-month-old boy with developmental dysplasia of the hip associated with isolated total aplasia of the pubic bone. Patient was successfully treated with modified Salter osteotomy and reverse U-shaped capsuloplasty.
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http://dx.doi.org/10.1097/BPB.0000000000000092 | DOI Listing |
J Sex Med
January 2025
Department of Urology, Holmesglen Private Hospital, Moorabbin 3189, Victoria, Australia.
Background: The penile suspensory ligament (PSL) plays a significant role in penile support and erection and its injury or congenital absence may result in functional impairment of erectile function.
Aim: To describe the diagnosis and surgical repair technique for PSL abnormalities and overall outcomes.
Methods: A comprehensive review of the literature was performed to understand the anatomic relevance of the PSL and historical management of PSL defects.
BMC Urol
December 2024
General Surgery Department, Isfahan University of Medical Sciences, Hezar Jarib Avenue, Isfahan, Iran.
Introduction: Concealed penis is a congenital anomaly that affects not only the appearance but also the function of the external genitalia in the male sex. Different surgical methods have been proposed to correct this disorder, including removal of the previous scar, penile shaft, penile trunk skin reconstruction with flap, penile skin fixation in penopubic and penoscrotal angles, and removal of extra pubic fat. In this study, we will discuss the results of definitive surgery in one stage using autogenous skin grafts and examine the details of this technique.
View Article and Find Full Text PDFClin Case Rep
December 2024
Department of Obstetrics and Gynecology Tribhuvan University, Institute of Medicine Kathmandu Nepal.
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare congenital disorder characterized by agenesis of the uterus and upper two-thirds of the vagina. It affects around 1 in 4000-5000 females and is of two types: type 1, also known as isolated Müllerian aplasia or Rokitansky, which involves only uterovaginal agenesis, and type 2, presents as uterovaginal agenesis along with renal, cardiac, and other organ anomalies. Despite the absence of vaginal and uterine structures, individuals with MRKHS typically present with normal secondary sexual characteristics and ovarian functions.
View Article and Find Full Text PDFBackground and objective Alcoholic liver disease (ALD) encompasses a spectrum of liver conditions caused by excessive alcohol consumption, including fatty liver, alcoholic hepatitis, and cirrhosis. Both phenotypical and biochemical changes in gonadal hormones are observed across these stages. This study aimed to evaluate the clinical, biochemical, and hormonal abnormalities in patients with varying degrees of ALD and to assess their correlation with disease severity.
View Article and Find Full Text PDFJ Transl Med
December 2024
Department of Physiology, Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.
Cleidocranial Dysplasia (CCD) is a rare genetic disorder characterized by skeletal abnormalities and dental anomalies, primarily caused by variants in the RUNX2 gene. Understanding the spectrum of RUNX2 variants and their effects on CCD phenotypes is crucial for accurate diagnosis and management strategies. This systematic review aimed to comprehensively analyze the genotypic and phenotypic spectra of RUNX2 variants in CCD patients, assess their distribution across functional regions, and investigate genotype-phenotype correlations.
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