TY - JOUR
T1 - Cleft lip and cone-rod dystrophy in a consanguineous sibship
AU - Ausems, Margreet G.E.M.
AU - Wittebol-Post, Dienke
AU - Hennekam, Raoul C.M.
PY - 1996
Y1 - 1996
N2 - Three siblings from a consanguineous marriage were found to have a cleft lip. Two of them developed a progressive retinopathy which was identified as a cone-rod dystrophy. It is suggested that this association may represent a hitherto unreported entity with an autosomal recessive pattern of inheritance, although chance co-occurrence cannot be excluded.
AB - Three siblings from a consanguineous marriage were found to have a cleft lip. Two of them developed a progressive retinopathy which was identified as a cone-rod dystrophy. It is suggested that this association may represent a hitherto unreported entity with an autosomal recessive pattern of inheritance, although chance co-occurrence cannot be excluded.
KW - autosomal recessive inheritance
KW - cleft lip
KW - cone-rod dystrophy
KW - retinopathy
UR - http://www.scopus.com/inward/record.url?scp=0029744813&partnerID=8YFLogxK
U2 - 10.1097/00019605-199610000-00005
DO - 10.1097/00019605-199610000-00005
M3 - Article
C2 - 8905195
AN - SCOPUS:0029744813
SN - 0962-8827
VL - 5
SP - 307
EP - 311
JO - Clinical dysmorphology
JF - Clinical dysmorphology
IS - 4
ER -