title: Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.
abstract: Recently we reported two sibs, brother and sister, with a new multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by mild to moderate psychomotor delay, Robin sequence, distinctive facial appearance, and brachydactyly. We have subsequently observed a similar pattern of anomalies in two unrelated patients who also showed additional clinical findings. This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition.
authors.affiliation: Istituto di Genetica Medica, Università Cattolica del S. Cuore, Facoltà di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy. fgurrieri@rm.unicatt.it
authors.forename: Fiorella
authors.initials: F
authors.lastname: Gurrieri
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Scarano
authors.forename: Livia
authors.initials: L
authors.lastname: Garavelli
authors.forename: Matteo
authors.initials: M
authors.lastname: Della Monica
authors.forename: Fortunato
authors.initials: F
authors.lastname: Lonardo
authors.forename: Domenico
authors.initials: D
authors.lastname: Cuda
authors.forename: Giacomo
authors.initials: G
authors.lastname: Banchini
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D008297:Male; D010855:Pierre Robin Syndrome / Q000235:genetics / Q000473:pathology*; D011859:Radiography