Article
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
Journal of medical genetics - 1 Sept 1991
Reardon W, Hall C M, Dillon M J, Baraitser M
Abstract excerpt
A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered.
Topics
- Abnormalities, Multiple
- Adolescent
- Bone and Bones
- Face
- Female
- Frontal Bone
- Hearing Loss, Bilateral
- Humans
- Hypertelorism
- Intellectual Disability
- Male
- Microcephaly