ECTOMORPHIC HABITUS, SEVERE MENTAL-RETARDATION, AND CHARACTERISTIC FACE - A NEW MCA MR SYNDROME/

Citation
Jp. Fryns et al., ECTOMORPHIC HABITUS, SEVERE MENTAL-RETARDATION, AND CHARACTERISTIC FACE - A NEW MCA MR SYNDROME/, American journal of medical genetics, 49(1), 1994, pp. 91-93
Citations number
1
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
49
Issue
1
Year of publication
1994
Pages
91 - 93
Database
ISI
SICI code
0148-7299(1994)49:1<91:EHSMAC>2.0.ZU;2-G
Abstract
Here we report on 2 mentally retarded sisters with clinical signs and symptoms not seen in a previously delineated MCA/MR syndrome, i.e., no rmal pre- and perinatal history, severe mental retardation with severe delay in psychomotor development and without development of primary m otor abilities and speech, characteristic face with maxillary hypoplas ia, large mouth with downturned corners, short philtrum and everted lo wer lip, associated with a remarkable ectomorphic habitus.