兎唇, 口蓋裂の成因に関する研究-特に日本人について

第三篇本症の外在的成因に関する研究

抄録

The author has the etiological studies of harelip and cleft palate, based on the examinations of 900 patients and their members of families which had belonged to 726 lineages, and 1627 women having the experience of a parturition, but no disposition of these malformation.
The results were summerized briefly as follows:
(Part I) studies on the clinico-statistical observation of harelip and cleft palate.
(1) About 16 of 726 cases showed distinctly thd hereditary nature.
The frequency of the consanguineous marriage of their proband's parents was 2.75 ± 0.60 % of all.
(2) These malformation were observed on males more than females. (male: female=2: 1)
(3) The complicated types were observed on males more than females, but in the simple types no difference could be observed between both sexes. The complicated types were a little more than the simple.
(4) The unilateral malformations were three times as many as the bilateral, and the left sided malformations were twice as many as the right sided.
(5) The 4.5 % of all cases had been complicated with the other malformations.
(6) Twin cases were observed on 0.8%(6 cases) in 726 lineages and this value is more than that of the inhabitant. There were 3 cases having these malformation among them.
(7) The families which have many children (above 5 brothers) were observed on the 25.6% of 766 cases. About 39% of 766 cases were observed on the first child of these brothers.
(8) The frequency of harelip and cleft plate among the inhabitant (at birth) was about 0.002.
(Part II) Studies on the intrinsic causative factor of harelip and cleft plate.
(1) The author used the most likelihood estimate (p) in place of the frequency of harelip and cleft plate among the brothers in the families having these disposition (p)
p=0.0287
The confidence interval for p of confidence coefficient 90 was
0.0225≤ p≤0.0364
This numerical value is far higher than the value of harelip and cleft palate among the inhabitant.
(2) Harelip and cleft palate have the hereditary nature and its formality of inheritance conforms to the theory of 3 recessive genes in which 1 lies in X-chromosome and 2 normal Chromosome.
(3) 5 types were distinguished among the malformed patients in the same lineage, namely type of brothers, type of parents and children, type of uncle (annt) and nephew (niece), type of cousins and type of cousin once removed. Most of each types were the standard-form.
(4) On so-called conductor, male cases were more than female.
(5) In cases of transmission from parents to children, the fathers affected more than the mothers, and further the inheritance to the same sex was more than to the other.
(6) It seems to the author that harelip and cleft palate have the nature of an antipitation.
(Part III) Studies on the extrinsic causative factors of harelip and cleft palate.
(1) Hyperemesis, disease and trauma among these extrinsic causative factors showed highly significant satistically between a group of these malformations and a group of normal children.
(2) About hyperemesis, a serious type (with malnutrition or brain-symptom) was observed on a group of these malformations more than on a normal group.
(3) About disease, there was no relation between these malformation and the spezific disease.
(4) As kinds of trauma, there were tumble, knocking and over-work in the early stage of a pregnancy.
(5) It is important that a pregnant women has been affected with the above mentioned factors by three months in the early stage of her pregnancy. The 27.5% of 606 cases was distinctly affected by these factors.