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Related Experiment Videos

Roberts-SC phocomelia syndrome.

A Maheshwari1, P Kumar, S Dutta

  • 1Newborn Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Indian Journal of Pediatrics
|July 14, 2001
PubMed
Summary
This summary is machine-generated.

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Roberts-SC phocomelia syndrome, a rare genetic disorder, presents with severe growth retardation and multiple anomalies. Early ultrasound and genetic testing can aid in antenatal detection of this condition.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Pathology

Background:

  • Roberts-SC phocomelia syndrome is a rare genetic disorder characterized by severe intrauterine growth retardation and limb malformations.
  • The syndrome presents with a constellation of congenital anomalies affecting multiple organ systems.

Observation:

  • A neonate exhibited severe growth retardation, craniofacial anomalies, microbrachycephaly, upper limb phocomelia, and renal cysts.
  • Autopsy revealed left-sided multicystic dysplastic kidney and unilateral testicular absence.
  • Cytogenetic studies were unremarkable in this specific case.

Findings:

  • The patient's phenotype aligns with the diagnostic criteria for Roberts-SC phocomelia syndrome.
  • Literature indicates that approximately 50% of individuals with this syndrome have associated chromosomal defects.

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  • Antenatal diagnosis is feasible through ultrasound and amniocyte chromosome analysis.

    • Implications:

    • This case underscores the importance of recognizing the phenotypic spectrum of Roberts-SC phocomelia syndrome.
    • Highlights the potential for antenatal diagnosis, enabling timely genetic counseling and management planning.
    • Emphasizes the role of advanced imaging and cytogenetic analysis in diagnosing rare genetic syndromes.