Phenotype #0000203517

Individual ID 00265732
Associated disease EDS
Inheritance Unknown
Diagnosis/Initial suspected EDS
Age/Examination 03y (3 years)
Diagnosis/Definite osteogenesis imperfecta/Ehlers-Danlos syndrome overlap
Age/Onset -
Phenotype/Onset -
Phenotype details long face, mild facial asymmetry, mild left esotropia, blue sclerae, soft and doughy skin all over the body, mild skin hyperextensibility of the limbs, hypermobility of the fingers and knees (Beighton score 6/8), accentuated dorsal kyphosis, flatfeet with extreme pronation of the hindfoot, genua valga, bilateral hallux valgus, and underdevelopment of the leg muscles
Hearing/Loss -
Protein -
CK-level -
EMG -
Muscle/Biopsy -
Age/Diagnosis -
Owner name Lucia Micale
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Lucia Micale
Date created 2019-10-02 10:52:28 +02:00 (CEST)
Date last edited 2019-10-07 12:17:42 +02:00 (CEST)

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