TY - JOUR
T1 - Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism
AU - Cohn, Ronald D.
AU - Gillessen-Kaesbach, Gabriele
AU - Dobyns, William B.
AU - Kahn, Thomas
AU - Lenard, Hans G.
AU - Voit, Thomas
PY - 1996/5/3
Y1 - 1996/5/3
N2 - A newborn male infant born to consanguineous parents was found to have diffuse polymicrogyria associated with an unusual pattern of congenital anomalies including microbrachycephaly, turricephaly, blepharophimosis, microstomia with maxillary retrusion and mandibular prognathism, micropenis with cryptorchidism, camptodactyly and adducted thumbs, and a progeroid appearance. The combination of manifestations in our patient represents a unique form of polymicrogyria with congenital anomalies, probably representing a new syndrome.
AB - A newborn male infant born to consanguineous parents was found to have diffuse polymicrogyria associated with an unusual pattern of congenital anomalies including microbrachycephaly, turricephaly, blepharophimosis, microstomia with maxillary retrusion and mandibular prognathism, micropenis with cryptorchidism, camptodactyly and adducted thumbs, and a progeroid appearance. The combination of manifestations in our patient represents a unique form of polymicrogyria with congenital anomalies, probably representing a new syndrome.
UR - http://www.scopus.com/inward/record.url?scp=0029967649&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19960503)63:1<314::AID-AJMG52>3.0.CO;2-N
DO - 10.1002/(SICI)1096-8628(19960503)63:1<314::AID-AJMG52>3.0.CO;2-N
M3 - Journal articles
C2 - 8723127
AN - SCOPUS:0029967649
SN - 0148-7299
VL - 63
SP - 314
EP - 317
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -
