Phenotype #0000129965
| Individual ID |
00165092 |
| Associated disease |
ML3C |
| Phenotype details |
The proband, a female born at term to young (maternal and paternal age at conception was 27 years old) and non-consanguineous parents was referred for clinical genetic evaluation
due to large joint contractures. On physical examination, the patient presented contractures and restrictions of movement, especially in the hands, feet and shoulders, and heart systolic murmur, audible mainly at the left
sternal border. The two-dimensional color Doppler echocardiography revealed the presence of mild thickening
of aortic valve leaflets with mild regurgitation. All other clinical parameters were within normal limits for the patient's age. The exam was performed through the subcostal window, as thoracic deformity prevented the use
of standard echocardiographic measures of pulmonary artery systolic pressure. Electroneuromyography of the upper limb was normal, and showed no electrophysiological evidence of peripheral neuropathy. The
somatosensory evoked potential of the upper and lower limbs was also normal. The patient was diagnosed as having ML III when she was 8 years old, and is currently stable. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
ML III gamma |
| Age/Examination |
08y (8 years) |
| Age/Diagnosis |
08y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Renata Voltolini Velho |
| Database submission license |
No license selected |
| Created by |
Renata Voltolini Velho |
| Date created |
2018-06-21 16:47:06 +02:00 (CEST) |
| Date last edited |
N/A |
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