title: Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
abstract: We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Young-Simpson syndrome). In two affected sibs with milder phenotype, compensated hypothyroidism was demonstrated. In another family, an affected boy was born to the unaffected sister of a previously reported patient. Finally, in the last sibship, two affected boys in addition had severe microcephaly and neurological anomalies. A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. We suggest discontinuing the systematic use of the term "Ohdo syndrome" when referring to patients with BMRS. We propose a classification of BMRS into five groups: (1) del(3p) syndrome, (possibly overlooked in older reports); (2) BMRS, Ohdo type, limited to the original patients of Ohdo; (3) BMRS SBBYS (Say-Barber/Biesecker/Young-Simpson) type, with distinctive dysmorphic features and inconstant anomalies including heart defect, optic atrophy, deafness, hypoplastic teeth, cleft palate, joint limitations, and hypothyroidism. BMRS type SBBYS is probably an etiologically heterogeneous phenotype, as AD and apparently AR forms exist; (4) BMRS, MKB (Maat-Kievit-Brunner) type, with coarse, triangular face, which is probably sex-linked; (5) BMRS V (Verloes) type, a probable new type with severe microcephaly, hypsarrhythmia, adducted thumbs, cleft palate, and abnormal genitalia, which is likely autosomal recessive. Types MKB and V are newly described here.
authors.affiliation: Clinical Genetics Unit, APHP Robert Debré University Hospital, Paris, France. Alain.Verloes@rdb.aphp.fr
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Dominique
authors.initials: D
authors.lastname: Bremond-Gignac
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
authors.forename: Albert
authors.initials: A
authors.lastname: David
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Leroy
authors.forename: René
authors.initials: R
authors.lastname: Stevens
authors.forename: Yves
authors.initials: Y
authors.lastname: Gillerot
authors.forename: Delphine
authors.initials: D
authors.lastname: Héron
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Héron
authors.forename: Brigitte
authors.initials: B
authors.lastname: Benzacken
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Han
authors.initials: H
authors.lastname: Brunner
authors.forename: Pierre
authors.initials: P
authors.lastname: Bitoun
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D016569:Blepharophimosis / Q000145:classification / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D040181:Genetic Diseases, X-Linked; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000145:classification / Q000235:genetics*; D008297:Male; D013577:Syndrome; D013997:Time Factors; D016896:Treatment Outcome