Phenotype #0000337244
| Individual ID |
00448055 |
| Associated disease |
? |
| Diagnosis/Initial |
connective tissue disorder |
| Diagnosis/Definite |
BCARD |
| Phenotype details |
see paper; ..., pregnancy intrauterine growth retardation; birth 40w, weight 1.95 Kg (<0.3rd centile), length (<0.3rd centile), OFC (<0.3rd centile); shallow orbits, small nose, downturned corners mouth, low-set ears, flat facial profile; 5m-right-sided diaphragmatic eventration repaired; bilateral talipes equinovarus requiring surgical correction, flexion contractures proximal interphalangeal joints first/second/third fingers; prominent knee joints; 7y-scoliosis, no underlying vertebral malformations; platyspondyly with inferior beaking second lumbar vertebra, small capital femoral epiphyses, J-shaped sella turcica, small odontoid; osteopenia, healed fractures left clavicle, right femur, and right humerus; poor skeletal muscle bulk; profound bilateral sensorineural deafnesstreated with cochlear implantation; shallow anterior chambers, flat retinae, 7y-cataract surgery; skin creases on both palms, blistering all toes/fingers, blistering pinnae |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
16y (16 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2024-02-13 14:17:56 +01:00 (CET) |
| Date last edited |
N/A |
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