title: Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation.
abstract: In 1993, Suthers et al. reported on a child with an undiagnosed syndrome associating developmental delay, brachycephaly, deafness and cataracts. They discussed the possibility that this child had the same dysmorphic syndrome as the patient reported by Fine and Lubinsky in 1983. Twenty years ago, we examined a very similar patient who has been followed up to now. When she was a baby, she looked extremely similar to another patient, reported by Preus et al. in 1984. We now think that these four patients have in fact the same syndrome, the patient reported by Fine and Lubinsky being an example of a very severe expression of this condition, the other patients expressing different anomalies depending on the age at examination.
authors.affiliation: INSERM SCII, Villejuif, France.
authors.forename: S
authors.initials: S
authors.lastname: Aymé
authors.forename: N
authors.initials: N
authors.lastname: Philip
mesh_terms: D000015:Abnormalities, Multiple; D002386:Cataract; D003638:Deafness; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008865:Microstomia; D013577:Syndrome