Yunis-Varón syndrome
Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive.
Radiographic features
- severe neurologic impairment include small cerebellar vermis and dandy walker malformation
- cleidocranial dysplasia
- absent clavicles
- macrocrania
- diastasis of sutures
- micrognathia
- absent thumbs and distal phalanges of fingers
- hypoplasia of the proximal phalanges
- absence of the distal phalanges of the big toes
- pelvic dysplasia/ fractures and bilateral hip dislocation
- poorly delineated lips
- cryptorchidism
- hypospadias
Treatment and prognosis
The syndrome is usually fatal in infancy.