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Craniofacial phenotypes associated with Robinow syndrome.

Christopher J Conlon1, Amjed Abu-Ghname1, Anjali C Raghuram1

  • 1Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, USA.

American Journal of Medical Genetics. Part A
|November 25, 2020
PubMed
Summary
This summary is machine-generated.

Robinow syndrome, a rare genetic disorder, presents with distinct craniofacial features. This study details these features and links them to specific genetic causes, aiding in early diagnosis.

Keywords:
ROR2cleft palatecraniofacial anomaliescraniofacial assessmentmacrocephalyrobinow syndrome

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Area of Science:

  • Genetics
  • Craniofacial Biology
  • Rare Diseases

Background:

  • Robinow syndrome is a rare genetic disorder characterized by limb shortening, hemivertebrae, and genital hypoplasia.
  • Phenotypic variability and low prevalence pose challenges in defining its features, particularly craniofacial manifestations.
  • Detailed genotype-specific craniofacial descriptions are lacking.

Purpose of the Study:

  • To comprehensively analyze craniofacial findings in Robinow syndrome patients.
  • To correlate specific craniofacial features with dominant Robinow syndrome (DRS) and recessive Robinow syndrome (RRS) genotypes.
  • To provide insights for early recognition and focused evaluation of Robinow syndrome.

Main Methods:

  • Multidisciplinary evaluation of 13 patients with clinical and molecular diagnoses of Robinow syndrome.
  • Focused craniofacial assessment by an expert examiner using clinical examination and standardized photography.
  • Analysis of genotype-specific phenotypic manifestations.

Main Results:

  • Gingival hyperplasia was observed in nearly all evaluated patients.
  • Orbital hypertelorism, short nose, triangular mouth, cleft palate, macrocephaly, and frontal bossing were present in both DRS and RRS patients.
  • Other craniofacial anomalies showed selective distribution across genotypes.

Conclusions:

  • This study provides a detailed analysis of craniofacial features in Robinow syndrome.
  • Correlations between specific craniofacial morphologies and genotypes (DRS/RRS) are presented.
  • Findings support earlier recognition and targeted assessment of Robinow syndrome patients.