Zimmerman-Laband syndrome
Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities.
Pathology
The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with a high mutation rate and rare instances of germinal mosaicism currently seem the most likely inheritance pattern.
Clinical presentation
- gingival hypertrophy
- bulbous nose and thick ears
- abnormal hands
- clubbed fingers and toes
- nail hypoplasia/dysplasia
- hypoplasia of the terminal phalanges of the hands and feet.
- intellectual disability (variable severity)
- seizures
- hypetrichosis
- other skeletal abnormalities
Radiographic features
- skeletal abnormalities
- hypoplasia of the terminal phalanges of the hands and feet
- possible limb asymmetry
- possible kyphosis
- possible lumbar spondylodysplasia
- possible mandibular hypertrophy
Siehe auch:
Assoziationen und Differentialdiagnosen zu Hereditäre Gingivale Fibromatose: