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This study details Robert syndrome cases in a Yugoslavian family, highlighting severe limb malformations and other congenital anomalies. The findings support a genetic basis, likely a single recessive gene mutation, for this rare condition.
Area of Science:
- Medical Genetics
- Clinical Dysmorphology
- Pediatric Case Study
Background:
- Robert syndrome is a rare genetic disorder characterized by severe limb malformations and craniofacial abnormalities.
- Understanding the phenotypic spectrum and genetic underpinnings of Robert syndrome is crucial for diagnosis and genetic counseling.
Purpose of the Study:
- To describe a family with three infants diagnosed with Robert syndrome.
- To document the specific clinical features observed in these affected individuals.
- To contribute to the understanding of Robert syndrome's etiology and prevalence.
Main Methods:
- Clinical examination of three infants from a Yugoslavian family.
- Detailed documentation of physical malformations and congenital anomalies.
- Review of existing literature to compare with reported cases.
Main Results:
- The study describes one female and two male infants with Robert syndrome.
- Key features included tetraphocomelia, cleft lip/palate, ectrodactyly, syndactyly, hypertelorism with exophthalmos, congenital heart defect, and failure to thrive.
- These cases increase the total reported instances of Robert syndrome to 26, including questionable diagnoses.
Conclusions:
- The observed constellation of anomalies in this family is consistent with Robert syndrome.
- The findings reinforce the hypothesis that Robert syndrome is primarily caused by a major single recessive gene mutation.
- Further research into the genetic basis of Robert syndrome is warranted.
Abstract:
A Yugoslavian family with one female and two male infants with Robert's syndrome is described. The main features were: (1) tetraphocomelia with missing or malformed bones of arms and legs; (2) bilateral cleft lip and palate; (3) ectrodactyly; (4) syndactyly of the digits; (5) hypertelorism with exophthalmos at birth; (6) congenital heart defect; (7) low birth weight and failure to thrive. These observations raise the reported cases of Robert's syndrome--including questionable ones--to a total of 26. The most likely basic etiology is a major single recessive gene mutation.