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Inverted nipples in Robinow syndrome
1Department of Pediatrics, University of Parma, Italy.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1996
Summary
Robinow syndrome, a rare genetic disorder, typically presents with specific clinical and radiological signs. This case highlights inverted nipples as a newly identified associated symptom, becoming apparent in infancy.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- Robinow syndrome is a rare autosomal dominant genetic disorder characterized by distinctive facial features, skeletal abnormalities, and developmental delay.
- Early diagnosis and understanding of associated symptoms are crucial for comprehensive patient management and genetic counseling.
Observation:
- A female newborn presented with the classic clinical and radiological manifestations of Robinow syndrome.
- Inverted nipples were observed, which were not immediately apparent at birth.
Findings:
- Inverted nipples emerged as a previously unreported clinical sign associated with Robinow syndrome.
- This symptom became distinctly evident only after the infant reached 6 months of age.
Implications:
- The identification of inverted nipples expands the clinical spectrum of Robinow syndrome.
- This finding may aid in earlier recognition and diagnosis of the syndrome in newborns and infants.