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Myhre syndrome: first female case.

N O Dávalos1, J E García-Ortiz, D García-Cruz

  • 1Division de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Jalisco, México.

Clinical Dysmorphology
|July 19, 2003
PubMed
Summary

This report details the first female case of Myhre syndrome, a rare genetic disorder affecting growth and intellectual development. Further research is needed to understand its inheritance patterns.

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Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Myhre syndrome is a rare autosomal recessive disorder characterized by short stature, intellectual disability, and distinctive facial features.
  • The genetic basis and inheritance patterns of Myhre syndrome are not fully understood, with limited cases reported in the literature.

Observation:

  • This study describes a 15-year-old female patient diagnosed with Myhre syndrome.
  • This represents the first documented case of Myhre syndrome in a female patient.

Findings:

  • The patient presented with clinical features consistent with Myhre syndrome.
  • The identification of a female patient expands the known phenotypic spectrum and underscores the need for broader diagnostic considerations.

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Implications:

  • This case highlights the importance of considering Myhre syndrome in the differential diagnosis of children with growth and developmental delays.
  • Further investigation into the genetic underpinnings and inheritance patterns of Myhre syndrome is crucial for accurate genetic counseling and potential therapeutic strategies.