Article
MCA/MR syndrome in two female siblings: new entity or variant examples of Coffin-Lowry versus Atkin-Flaitz syndromes?
Genetic counseling (Geneva, Switzerland) - 1 Jan 1992
Jans A, Ippel E F, Dijkstra P F, Bijlsma J B
Abstract excerpt
We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers. Although these patients' phenotypes showed considerable overlap with the Coffin-Lowry and the Atkin-Flaitz syndromes, their overall picture makes these diagnoses controversial.
Topics
- Abnormalities, Multiple
- Adolescent
- Diagnosis, Differential
- Facial Bones
- Female
- Fingers
- Genes, Dominant
- Humans
- Intellectual Disability
- Phenotype
- Sex Chromosome Aberrations
- Syndrome