title: MCA/MR syndrome in two female siblings: new entity or variant examples of Coffin-Lowry versus Atkin-Flaitz syndromes?
abstract: 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.
authors.affiliation: Observation Center for Mentally Retarded Children De Hondsberg, Oisterwijk, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Jans
authors.forename: E F
authors.initials: EF
authors.lastname: Ippel
authors.forename: P F
authors.initials: PF
authors.lastname: Dijkstra
authors.forename: J B
authors.initials: JB
authors.lastname: Bijlsma
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D003937:Diagnosis, Differential; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome