ABSTRACT Twelve autopsy cases (9 males, 3 females) of the prune belly syndrome
are presented. Principal anomalies of this syndrome are a prune-like abdominal
feature and a giant bladder. Urethral atresia was observed in most but two
cases. Imperforate anus and rectovesical fistula were observed in 8 and 7 cases respectively.
Associated anomalies were those which may or may not be embryologically
related to the principal anomalies.
As regards the pathogenesis, the authors propose that a primary defect may occur
during any developmental stage of the somitic mesoderm, genital tubercle and
urethra. In conclusion, the prune belly syndrome may be of spectrum anomalies
depending on the stage specificity mainly in the abdominal wall and genito-urinary
ABSTRACT By way of a questionnaire concerning 155,620 elementary and junior
high school pupils (aged 6-14), we investigated for the first time in Japan the prevalence
rate of inguinal hernia in children and its spontaneous cure.
Of the 76,425 male and 79,195 female children surveyed, inguinal hernia was
found in 6,523 (8.53%) boys and 2,975 (3.75%) girls. In total, the prevalence rate
was 6.10% with a male/female ratio of 7:3.
Of the 6,523 boys who had or had had inguinal hernia, 3,425 had undergone
surgery. Of the remaining 3,098 unoperated male patients, 1,160 was cured with a
hernia band and 1,140 showed spontaneous cure. The rate of cure without surgery
in all the male patients was 35.26%.
In girls, 1,198 of the 2,975 subjects having inguinal hernia at the time of the
survey or in the past had undergone surgery. Of the remaining 1,777 unoperated
patients, 369 recovered with a hernia band and 677 showed spontaneous cure.
Thus, 35.16% of all the female patients were cured of the condition without surgery.
ABSTRACT As an attempt to establish the methodology of behavioral teratology,
this study was carried out to investigate whether the effects of HU would be different
between Wistar and Sprague-Dawley (SD) rats. Hydroxyurea (HU) was intraperitoneally
injected to pregnant SD rats at does of 50 or 100 mg/kg/day during
the organogenetic period (days 9 to 12 of gestation). Male offspring from these
dams were observed for their morphological and behavioral developments. Microphthalmia
was found in only 2 pups at the 21st day of the 100 mg/kg/day group.
No adverse effect of postnatal growth was observed in all treated groups. The number
of ambulation in the open field test at 3 and 4 weeks of age in the 50 mg/kg/
day group and at 5 weeks of age in the 100 mg/kg/day group was decreased. No inhibition
of reflex development, traction response and rotorod performance was observed
in all treated groups. These findings suggested that the morphological and
behavioral effects of HU in SD male rats are less severe than those in Wistar male
rats as was in our previous study. The strain differences in the exploratory behavior
seemed to be more severe, because the specific behavioral type in both
strains might be potentiated by HU treatment.
ABSTRACT Administration of the antispermatogenic agent bis-diamine (N, N’-bis-
(dichloroacety1)-1 , 8-octamethylenediamine) to pregnant rats produced a malformation
complex resembling DiGeorge syndrome in man. The malformations consisted
of hypoplasia or aplasia of the thymus, persistent truncus arteriosus, tetralogy
of Fallot, aberrant subclavian artery and other cardiovascular anomalies, as
well as hypoplasia of the parathyroid gland, thyroid gland, and the spleen. The
malformation complex appeared with a high incidence when the drug was administered
on day 9.5 or day 10 of gestation.
Since the connective tissues of the thymus, aorticopulmonary septum, smooth
muscles of the media of the aortic arch artery, and connective tissues of the parathyroid
and the thyroid glands, are of neural crest origin, and since the time of
their migration is around day 10 of gestation, we postulate that the action of bisdiamine
might be involution of the migration of the neural crest cells and of its
We further suggest from the findings of persistent atrioventricular canal and hypoplasia
of the spleen, that the drug must have also affected the growth of mesenchymal
cells, which originate from the endocardia1 epithelial cells.
ABSTRACT Craniofacial anomalies induced by bis(dichloroacety1)diamine (bisdiamine)
were studied in two strains of mice, Jc1:ICR and A/J. Bisdiamine was
given by oral intubation at a dose of 3,200 mg/kg/day at days 7.5 and 8.5,8.5 and
9.5,9.5 and 10.5 or 10.5 and 11.5 of pregnancy (VP = day 0).
A/J was more susceptible to embryolethal effects of bisdiamine and had a longer
sensitive period to teratogenic effects of bisdiamine. The most susceptible period
for craniofacial anomalies induced by bisdiamine in A/J was one day later than that
in Jc1:ICR. In both strains, median facial anomalies, cleft palate, protuberance(s)
on the forehead and open eyelids were commonly induced craniofacial anomalies.
Median facial anomalies were more frequent and also more severe in Jcl:ICR, while
lateral cleft lip was observed only in A/J.
Strain differences for embryolethality and types and frequencies of craniofacial
anomalies are discussed on the basis of genetic homozygosity , craniofacial development
and embryonic face shape immediately before the fusion of the nasal prominences.
Neural crest cells are thought to be the target of bisdiamine.
ABSTRACT The authors have previously reported on the possibility of using the
detection of crystalluria of 2, 8-dihydroxyadenine as a screening test for the early
discovery of congenital adenine phosphoribosyltransferase deficiency.
Since the amount of adenine in urine was determined by high performance
liquid chromatography and hyperadeninuria in a girl patient with this disease was
definitely recognized, it is concluded that the detection of crystalluria of 2,8-
dihydroxyadenine as a primary screening test and the demonstration of hyperadeninuria
as a secondary screening are helpful in an early detection of this disease.
The authors would like to propose this disease be designated a “Adenine-body
Urine Disease,” since adenine bodies such as adenine and 2,8-dihydroxyadenine are
excreted into the urine in large volumes.
ABSTRACT A newly established rat strain named TW showed congenital abnormalities
in the male genital organs at about 47% incidence. These abnormalities included
the unilateral or bilateral testicular hypoplasia accompanied with ipsilateral
aplasia of the epididymis, ductus deferens and gland of ductus deferens. Most commonly
these accessories were completely absent but in some cases the lack was
partial. The other accessories such as the seminal vesicle, coagulating gland, and
prostate were normal. The female genital organs were normal. The genetical
analysis revealed that these defects are transmitted by multiple genes with an incomplete
penetrace and a threshold effect. The TW rat provides a useful model for
studying the developmental process of the male genital system.
ABSTRACT The main values of our knowledge of the genetics of birth defects
are proper diagnosis and counseling.
A classification of hand malformations on anatomic and genetic grounds was
proposed by Temtamy (1966), Temtamy and McKusick (1969, 1978): The ten
main categories are (1) Absence, (2) Brachydactyly, (3) Syndactyly, (4) Polydactyly,
(5) Symphalangism, (6) Arachnodactyly, (7) Macrodactyly, (8) Carpal/
Tarsal synostosis, (9) Congenital ring constrictions, and (10) Contractures.
The hand malformation is either isolated or associated with other organ malformation
as a part of syndromes. In the monograph by Temtamy and McKusick
(1978), numerous new syndromes were identified, some of which were based on
single or few observations.
The paper summerizes the pertinent findings in a computerized literature survey
of absence or deficiency malformation as part of synderomes reported between
1977 and 1983.
Analysis of the literature confirmed the identity of previously reported syndromes
and added “new” entities.
The originally proposed classification of hand malformations proved to be useful
and allowed for easy sorting out of the recent literature and for indentification
of new syndromes.