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Case Reports
. 2004 Apr;13(2):91-94.

Second female case of Myhre syndrome

M G Lopez-Cardona  1 , D Garcia-Cruz, J E Garcia-Ortiz, N O Davalos, A Feria-Velasco, L X Rodriguez-Rojas, M O Garcia-Cruz, L E Figuera-Villanueva, A Stephens, F Larios-Arceo, J Sanchez-Corona
Affiliations
  • PMID: 15057124
Case Reports

Second female case of Myhre syndrome

M G Lopez-Cardona et al. Clin Dysmorphol. 2004 Apr.

Abstract

Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients.

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References

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    1. Davalos NO, Garcia-Ortiz JE, García-Cruz D, Feria-Velasco A, Sanchez-Corona J 2003. Myhre syndrome: first female case. Clin Dysmorphol 12:119–122.
    1. Garcia-Cruz D, Figuera LE, Feria-Velasco A, Sanchez-Corona J, Garcia-Cruz MO, Ramirez-Dueñas RM, et al. 1993. The Myhre syndrome: report of two cases. Clin Genet 44:203–207.
    1. London Dysmorphology Data Base 1996. Oxford Medical Databases, 3rd edn. Oxford: Oxford University Press Electronic Publishing Version 1.0 (29/10/96).
    1. Myhre SA, Ruvalcaba RHA, Graham CB 1981. A new growth deficiency syndrome. Clin Genet 20:1–5.

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