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The Robinow (fetal face) syndrome: a continuing puzzle
1Department of Pediatrics, Wright State University School of Medicine, Dayton, OH.
Clinical Dysmorphology
|July 1, 1993
Summary
Robinow syndrome, or fetal face syndrome, presents distinct autosomal dominant and recessive forms. Phenotypic differences, particularly in male hypogenitalism, help distinguish these types, though no molecular cause is yet known.
Area of Science:
- Genetics
- Pediatrics
- Dysmorphology
Background:
- Robinow syndrome, characterized by a fetal face appearance, has a complex genetic basis.
- Distinct autosomal dominant and recessive forms of the syndrome are recognized.
- Phenotypic variability and specific features require detailed documentation.
Purpose of the Study:
- To present the historical evolution of Robinow syndrome.
- To detail the phenotypic spectrum, including syndrome-specific and non-specific abnormalities.
- To differentiate between the autosomal dominant and recessive subtypes.
Main Methods:
- Literature review and case study analysis.
- Phenotypic description and comparison of documented cases.
- Clinical observation and illustration of abnormalities.
Main Results:
- Robinow syndrome exhibits distinct autosomal dominant and recessive inheritance patterns.
- Phenotypic differences are observable between the two forms.
- Males consistently show hypogenitalism (micropenis), while females have milder genital hypoplasia.
- No specific biochemical or molecular markers have been identified to date.
Conclusions:
- The autosomal dominant and recessive forms of Robinow syndrome are phenotypically distinguishable.
- Genital abnormalities are a key differentiating feature, especially in males.
- Further research is needed to identify the underlying biochemical or molecular basis of the syndrome.