Allain Babin Demarquez syndrome
Synonyms
2
Overview
A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
Symptoms
- Flared nostrils
- Prominent forehead
- High forehead
- Humeroradial fusion
- Abnormal rib structure
- Flat occiput
- Camptodactyly of some fingers
- Depressed nasal bridge
- Proteinuria
- Renal glomerular defect
- Restricted joint mobility
- Scoliosis
- Female pseudohermaphrodism
- Underdeveloped antihelix
- Abnormal helix
- Low-set ears
- Narrow hips
- Narrow rib cage
- Overlapping toes
- Deep upper lip groove
- Abnormal vertebral size
- bnormal vertebral shape
- Short head
- Small ear lobe
- Underdeveloped ear lobe
- Ankle bone fusion
- Tented upper lip
- Hypertension
- Small jaw
- Small mouth
- Multiple sutural synostoses
- Tapered fingers
- Narrow diaphysis
Resources
- NIH