• Korean Journal of Biological Psychiatry
• /
• v.9 no.2
• /
• pp.140-151
• /
• 2002

Object and Method:Minor physical anomalies(MPAs) are frequently seen in patients with schizophrenia. MPAs are considered to arise from the anomalous development of ectoderm-originated tissues in the developing fetus. Since the central nervous system originates from ectoderm, MPAs can be regarded as externally observable and objective indicators of the aberrant development which might have taken place in the central nervous system. To investigate whether MPAs are more frequent in schizophrenic patients, the frequencies of MPAs were compared between schizophrenic patients and normal controls. Total 245 schizophrenic patients diagnosed with DSM-IV(male : 158, female : 87), and 418 normal control subjects(male : 216, female : 202) were included in this study. The MPAs were measured using the modified Waldrop scale with fifteen items in six bodily regions; head, eye, ear, mouth, hand, and foot. Result:The total scores of Waldrop scale were $4.40{\pm}1.93$($mean{\pm}standard$ deviation) in patients and $3.43{\pm}1.68$ in controls for females, and for males, $4.58{\pm}1.75$ in patients and $4.28{\pm}1.59$ in controls. For females, the excess of MPAs in schizophrenic patients was statistically significant(t-test : p<0.001). For males, schizophrenic patients also showed more MPAs than normal controls, but this tendency did not reach statistical significance (t-test : p=0.094). When the modified Waldrop total scores excluding head circumference were compared, the total scores in schizophrenic patients were significantly higher for both male and female subjects(t-test : male p<0.001, female p=0.001). The individual anomaly items included in Waldrop scale were also investigated. The items of epicanthus, hypertelorism, malformed ears, syndactylia were significantly more frequent in schizophrenic patients. In contrast, the items of adherent ear lobes, asymmetric ears, furrowed tongue, curved fifth finger, single palmar crease and big gap between toes did not show any differences in frequency between schizophrenic patients and normal controls. Since a lot of statistical analyses showed different results between male and female subjects, it seems to be necessary to consider gender as an important controlling variable for the analysis, however only the item of head circumference showed statistically significant gender-related difference according to log-linear analysis. Conclusion:With a relatively large sample size, the frequencies of MPAs enlisted in Waldrop scale were compared between schizophrenic patients and normal controls in this study. MPAs were more frequently seen in schizophrenic patients and, especially, several specific items in the Waldrop scale showed prominent excess in schizophrenic patients. Although definite conclusions cannot be drawn due to the inherent limitation of the study using Waldrop scale, these results seem to support the possibility that aberrant neurodevelopmental process might be involved in the pathogenesis of schizophrenia in some of the patients.

• Journal of Preventive Medicine and Public Health
• /
• v.22 no.1 s.25
• /
• pp.71-80
• /
• 1989

The adverse effect of diving on the fetus may extend beyond n gestational process and outcome. Primiparous Sprague-Dawley rats were assigned to one of ten exposure schedules during gestatred $PO_2$ level, the following question about the effect of exposing a pregnant female to high partial pressure of inspired oxygen has been raised. 'What effect does an increased maternal $PIO_2$ have on fetal arterial $PO_2$ and therefore on possible fetal oxygen poisoning?' This study was carried out to observe the effects of maternal hyperoxia on gestational process and outcome. Primiparous Sprague-Dawley rats were assigned to one of ten exposure schedules during gestation. The treatment groups were subjected to either the high concentration of oxygen, or the high atmospheric pressure. On day 21 of gestation, laparotomy was performed to examine for number and distribution of implantations and live and resorbing embryos. Fetuses were weighed, and examined for gross malformations. Subsequently, they were fixed, measured in physical parameters, and examined for visceral anomalies. Minor visceral anomalies and anatomical variation was not found. Similarily, there were no significant differences when number of resorptions, mean fetal weights, pregnancy interruption rate were compared by analysis of variance. These results indicate that exposing rats to oxygen at increased atmospheric pressure doese not affect fetal health or survival.

• Journal of Genetic Medicine
• /
• v.18 no.2
• /
• pp.105-109
• /
• 2021

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.13 no.2
• /
• pp.104-107
• /
• 2017

Kabuki syndrome is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnatal growth deficiency. A 6-year-old male with kabuki syndrome was referred from the local dental clinic for left facial swelling and dental caries on all primary molars. He was treated for acute periapical abscess with incision and drainage under physical restraint, and left maxillary second primary molar was extracted. Other caries treatment was performed under general anesthesia. As the syndrome involves many different medical problems, special cares should be considered. Dental treatment should be carried out in comprehensive consultation system.