Second female case of Myhre syndrome.

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.

• Authors: M G Lopez-Cardona, 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
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 13 Issue 2 Pg. 91-94 (Apr 2004) ISSN: 0962-8827 [Print] England
• PMID: 15057124 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics, pathology)
• Body Height
• Bone and Bones (abnormalities, diagnostic imaging)
• Child, Preschool
• Face (abnormalities)
• Female
• Genetic Diseases, X-Linked
• Heart Defects, Congenital (pathology)
• Humans
• Muscular Diseases (pathology)
• Radiography