Phenotype #0000130001
| Individual ID |
00165104 |
| Associated disease |
ML3C |
| Phenotype details |
Patient A, male, is the third sibling from non-consanguineous parents. First symptoms started at the age of 10 years (claw hands). He developed disabling hip pain because of Legg–Calvé–Perthes disease, and prostheses were inserted bilaterally at 34 and 36 years of age. An umbilical hernia was repaired at the age of 37 years, and severe carpal tunnel syndrome was corrected by wrist surgery at the age of 40 years. At the last visit, he was 42 years old and currently working on the family farm, having no complaints or difficulties in his daily tasks. He
did not finish high school but does not appear to have cognitive impairment. A physical exam showed mild coarse facial features,
systolic murmur, no organomegaly, claw hands and severe joint contractures of the shoulders, elbows and knees. In addition to these
symptoms, he had some difficulty in moving the right leg because of an external rotation of the knee. On echocardiography he had
supravalvular aortic stenosis, minimal physiological mitral regurgitation, mild tricuspid regurgitation and systolic pulmonary artery
pressure at 29mm Hg, without other alterations. The neurological exam was normal. A polysomnography was performed and showed
mild apnea hypopnea index (11.5).
Patient B, male, second sibling from non-consanguineous parents, was diagnosed at the age of 38 years, after the ML III diagnosis of his
brother (patient A). Claw hands and shoulder contractures were noted since adolescence. He developed disabling hip pain because of
Legg–Calvé–Perthes disease, and prostheses were inserted bilaterally at 38 and 40 years of age, respectively. At his last visit, he was 44 years old and currently working on the family farm, without complaints or difficulties in his tasks. Similar to his brother, he did not finish high school but does not appear to have cognitive impairment. A physical exam showed coarse facial features (even milder than patient A) and mild joint restrictions in the hands, elbow, shoulder and knees.
The neurological exam was normal. The echocardiogram and polysomnography were normal. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
ML III gamma |
| Age/Examination |
42y (42 years) |
| Age/Diagnosis |
34y05m |
| Age/Onset |
10y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Renata Voltolini Velho |
| Database submission license |
No license selected |
| Created by |
Renata Voltolini Velho |
| Date created |
2018-06-26 15:07:37 +02:00 (CEST) |
| Date last edited |
N/A |
|
