Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.
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.
Gurrieri
Fiorella
F
Istituto di Genetica Medica, Università Cattolica del S. Cuore, Facoltà di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy. fgurrieri@rm.unicatt.it
Scarano
Gioacchino
G
Garavelli
Livia
L
Della Monica
Matteo
M
Lonardo
Fortunato
F
Cuda
Domenico
D
Banchini
Giacomo
G
Opitz
John M
JM
Neri
Giovanni
G
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