A 26-month-old child with Marden-Walker syndrome and pyloric stenosis

Area of Science:

• Genetics
• Pediatrics
• Medical Genetics

Background:

• Marden-Walker syndrome is a rare disorder characterized by a distinct set of congenital anomalies.
• Understanding the genetic basis and phenotypic spectrum is crucial for diagnosis and management.

Observation:

• A 26-month-old boy presented with facial dysmorphia, blepharophimosis, hypertelorism, low-set ears, micrognathia, arachnodactyly, talipes equinovarus, and joint contractures.
• The patient subsequently exhibited failure to thrive, recurrent respiratory infections, and developmental delay.
• Mild pyloric stenosis and duodenal bands were also noted, which are not previously reported in Marden-Walker syndrome.

Findings:

• The constellation of congenital anomalies and clinical course strongly supports a diagnosis of Marden-Walker syndrome.
• The presence of pyloric stenosis and duodenal bands represents a novel finding in this syndrome.
• The syndrome is suggested to be an autosomal recessive trait in some families, supported by a review of 16 previously published cases.

Implications:

• This case broadens the phenotypic description of Marden-Walker syndrome, aiding in future diagnoses.
• The identification of new associated features may refine diagnostic criteria and genetic counseling.
• Further research into the genetic underpinnings and inheritance patterns of Marden-Walker syndrome is warranted.