Berry S A, Pierpont M E, Gorlin R J
J Pediatr. 1984 Jun;104(6):877-80. doi: 10.1016/s0022-3476(84)80485-0.
Most cases of holoprosencephaly occur sporadically, but occasionally this malformation recurs in a kindred. In a family with two affected children, the father and paternal aunt were found to have single central maxillary incisors and hypotelorism. Family members of children with holoprosencephaly should be carefully examined for these physical findings; their presence may represent evidence for a less severe form of holoprosencephaly that may be transmitted in an autosomal dominant fashion.
多数前脑无裂畸形病例为散发性,但该畸形偶尔会在家族中复发。在一个有两名患病儿童的家庭中,发现父亲和姑姑有上颌正中单颗切牙及眼距过窄。前脑无裂畸形患儿的家庭成员应仔细检查这些身体特征;这些特征的存在可能表明存在一种较轻形式的前脑无裂畸形,其可能以常染色体显性方式遗传。