Agnathia‐holoprosencephalya new recessive syndrome?

摘要

The association between agnathia and holoprosencephaly is well documented (Pauli et al., 1981). Pauli et al. described two female sibs with agnathia and holoprosencephaly who were subsequently shown to carry an unbalanced 46, XX, der 18,t(6;18)(pter P24.1) karyotype (Pauli et al., 1983; Krassikoff and Sekhon, 1989). All other cases have been sporadic (Cohen, 1989). We present a recurrence of agnathia-holoprosencephaly in an unrelted European couple and postulate that this association may represent an autosomal recessive syndrome.