Robinow syndrome: report of one case

Area of Science:

• Medical Genetics
• Pediatrics
• Skeletal Dysplasias

Background:

• Robinow syndrome is a rare autosomal dominant or recessive genetic disorder characterized by distinctive facial features, short limbs, and other skeletal anomalies.
• Early diagnosis and understanding of inheritance patterns are crucial for genetic counseling and management of affected individuals.

Observation:

• A 2-month-old infant presented with classic Robinow syndrome features, including short stature, characteristic facies, mesomelic brachymelia, brachydactyly, camptodactyly, thumb duplication, clitoral hypoplasia, and foot deformities.
• Radiographic analysis revealed significant skeletal abnormalities, including rib and vertebral anomalies, humeral bone changes, and generalized shortening of metacarpal, metatarsal, and phalangeal bones.
• Cytogenetic studies confirmed a normal female karyotype, ruling out chromosomal abnormalities as the cause.

Findings:

• The clinical and radiographic findings in this infant are consistent with Robinow syndrome.
• The absence of identifiable chromosomal abnormalities and the presentation suggest a potential sporadic mutation or autosomal recessive inheritance.
• Review of existing literature aids in comparing this case with previously reported instances of Robinow syndrome.

Implications:

• This case contributes to the understanding of the phenotypic variability and genetic basis of Robinow syndrome.
• Accurate diagnosis through clinical observation and radiographic assessment is vital for appropriate patient care and genetic counseling.
• Further research into the genetic underpinnings of Robinow syndrome may reveal novel mutations and inform therapeutic strategies.