We present the distinct clinical symptoms and stigmata in 4.5 years old monozygotic male twins: macrocephaly, hypospadias grade III-IV, moderate mental retardation and fragile X-like behavior. Chromosome studies were normal and no FMR-1 mutation could be detected. We could not find other reports on the association of a fragile X-like clinical and behavioral phenotype and hypospadias grade III-IV.

Download full-text PDF

Source

Publication Analysis

Top Keywords

hypospadias grade
12
grade iii-iv
12
fragile x-like
12
macrocephaly hypospadias
8
x-like behavior
8
iii-iv fragile
4
behavior identical
4
identical twins
4
twins involvement
4
involvement fmr-1
4

Similar Publications

Penoscrotal transposition: Long-term outcome in 29 patients.

Arch Ital Urol Androl

October 2024

Department of Urology and Department of Pediatric Urology, Shaare Zedek Medical Center, Jerusalem.

Objective: Penoscrotal transposition (PST) is a rare anomaly of the external genitalia characterized by malposition of the penis in relation to the scrotum. This transposition may be partial or complete and may be associated with hypospadias, chordee, and other anomalies. We have reviewed our experience with the surgical repair of PST utilizing a modified Glenn-Anderson technique.

View Article and Find Full Text PDF

Background And Aims: Erector spinae plane block (ESPB) has been found to be simple, safe, and effective at thoracic and lumbar levels. There is no randomized controlled trial evaluating its effectiveness at sacral level. The present study was conducted to evaluate its effectiveness at sacral level for postoperative analgesia in pediatric patients undergoing hypospadias repair.

View Article and Find Full Text PDF

Objectives: To describe a new penoscrotal reconfiguration technique, named "V-I penoscrotal reconfiguration" for the surgical reconstruction of a congenital webbed penis (CWP).

Methods: Twenty-one patients who underwent the "V-I penoscrotal reconfiguration technique" were included in this retrospective study. The CWP severity was assessed according to El-Koutby's classification.

View Article and Find Full Text PDF

An 8-year-old boy initially thought to have a penile arteriovenous malformation was later diagnosed with a rare vascular sarcoma, epithelioid hemangioendothelioma (EHE). Despite challenges in diagnosis, he underwent supraselective angioembolization and partial penectomy for oncological clearance. EHE, a low-grade malignancy, requires prompt identification and treatment due to potential systemic involvement.

View Article and Find Full Text PDF

Introduction: Hypospadias repair is regarded as a technically demanding, complex procedure, with variable outcomes. Therefore, it tends to be performed by consultants, with limited trainee involvement. We aimed to study the clinical outcomes of supervised registrars performing proximal and distal hypospadias repairs, compared to their consultant mentors.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!