Süss J, Pfeiffer R A, Zschiesche S, König R
Institut für Humangenetik der Universität Erlangen-Nurnberg.
Dtsch Zahnarztl Z. 1990 Dec;45(12):785-8.
In families in which holoprosencephaly seems to be inherited by a rare dominant autosomal mutation, some individuals exhibit a single central maxillary incisor (SCMI). This anomaly was considered a minimal manifestation of the gene for holoprosencephaly. We report on a family, in which one child suffered from median cleft lip and palate and alobar holoprosencephaly, whereas the other child only had a SCMI. In the father and his sister lateral upper incisors were absent. Therefore the question is raised as to whether this anomaly may be related to the same condition.
在全前脑畸形似乎由一种罕见的常染色体显性突变遗传的家族中，一些个体表现出单个上颌中切牙（SCMI）。这种异常被认为是全前脑畸形基因的一种轻微表现形式。我们报告了一个家族，其中一个孩子患有正中唇腭裂和无脑叶全前脑畸形，而另一个孩子仅有单个上颌中切牙异常。父亲及其妹妹缺失上颌侧切牙。因此，提出了这样一个问题，即这种异常是否可能与同一病症有关。
