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
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.