[McKusick-Kaufman syndrome: diagnostic and therapeutic problems]

Area of Science:

• Genetics
• Pediatrics
• Medical Genetics

Background:

• Mc Kusick-Kaufman Syndrome (SMK) is an autosomal recessive disorder.
• SMK is characterized by hydrometrocolpos and polydactyly, more common in females.
• The syndrome's incidence is higher when parents are first-degree cousins.

Observation:

• Two siblings with SMK were studied: one male and one female.
• The male infant had postaxial hexadactyly, cardiovascular, and Arnold-Chiari II malformations, with a fatal outcome.
• The female infant presented with prenatal hydrometrocolpos, persistent urogenital sinus (UGS), and polydactyly.

Findings:

• The female patient underwent reconstructive surgery using the ASTRA approach with a prior colostomy.
• Post-surgery, at 32 months, the patient achieved urinary and fecal continence.
• The surgical outcome for the female patient's urogenital structures was favorable.

Implications:

• This case highlights the genetic inheritance pattern of SMK.
• It demonstrates the potential for successful surgical management of complex urogenital malformations in SMK.
• Early diagnosis and surgical intervention can significantly improve patient outcomes and quality of life.