FRONTOMETAPHYSEAL DYSPLASIA

References

Craniofacial
Coarse facies with wide nasal bridge and prominent supraorbital ridges
High palate
Incomplete sinus development
Retained deciduous teeth
Small mandible
General
Cardiac murmur cause unknown
Mixed conductive and sensorineural hearing loss which progresses
Obstructive uropathy
Subglottic tracheal narrowing
Wasting of muscles of arms and legs especially hypothenar and interosseous muscles of hands
Hands
Arachnodactyly
Joints and Tendons
Joint contractures
Limbs Abnormality
Increased density in diaphyseal region with lack of modeling in metaphyseal region giving Erlenmeyer-flask appearance to femur and tibia
Partial fusion of carpal and of tarsal bones
Ocular
Myopia
Ocular hypertelorism
Upward slant to palpebral fissures
Oral
Anodontia
Delayed eruption of teeth
Performance
Mental retardation
Skeletal
Chest cage deformities
Flared pelvis with constriction of supra acetabular area
Winged scapulae