Dysmorphology diagnosis

A patient with multiple malformations poses a diagnostic dilemma to the pediatrician. There are thousands of malformation syndromes described and diagnosis of a syndrome appears a daunting task. An approach to diagnosis of a malformation syndrome is presented. Relevant details in the history and examination, important investigations, the process of differential diagnosis, and search engines used to aid in diagnosis of a malformation syndrome are described     

Dysmorphology in Children with Congenital Metabolic Disorders

The prevalence of minor morphological aberrations was evaluated in 54 children with various congenital metabolic disorders. Similarly to major malformations, minor malformations were not more common in the patients than in our control population. The dysmorphic appearance of some of the affected children was caused by minor variants that arose after organogenesis.     

The Diagnosis of Syndromes by Use of a Dysmorphology Database

ABSTRACT. A dysmorphology data base can be useful for the clinician in the task of diagnosing multiple malformation syndromes in children. In this article the database POSSUM is described. Four patients with multiple anomalies referred for diagnostic syndrome evaluation are presented. They serve as examples on how POSSUM efficiently can be applied to obtain a short list of appropriate alternative syndromes, subsequently followed by a discussion on the differential diagnosis in each case. A specific, rare syndrome was diagnosed with the aid of POSSUM in all four cases. POSSUM appears to be useful for the diagnosis of dysmorphic syndromes.     

Dysmorphology: an approach to a child with structural defects

An approach to children with structural defects has been presented. The ultimate goal of this approach is a specific overall diagnosis. In such cases appropriate genetic counseling for the parents, accurate prognostication relative to the child's future development and an appropriate plan to help the child reach his potential usually are possible. When an overall diagnosis is lacking, the most that can be expected is a better understanding of the nature and onset of the problem. That in itself can often be helpful to patients and to all others dealing with children having structural defects.     

Murine teratology of fluconazole: evaluation of developmental phase specificity and dose dependence

The potential of in utero exposure to fluconazole to initiate teratogenesis was analyzed in ICR (CD-1) mice. Developmental phase specificity was determined by treating mice with single oral doses of 700 mg/kg on gestational day 8, 9, 10, 11, or 12. Control animals received vehicle on gestational days 8-12. Gestational day 10 was identified as the phase of maximal sensitivity for induction of cleft palate, the predominant teratogenic effect induced by fluconazole, with 50% of fetuses exposed on this developmental phase being affected. After treatments on gestational day 8, 9, 11, or 12, cleft palate occurred with lower frequencies: 12, 21, 28.7, and 2.7%, respectively. Examination of skeletal morphology revealed anomalies of the middle ear apparatus in 15% of the fetuses that were exposed on gestational day 8. Dysmorphic tympanic ring and absence of the incus were the more common ear anomalies recorded. Reduced humeral length was noted in 22% of fetuses that were exposed on gestational day 10. Dose-response relationship was investigated by treating animals with 0 (vehicle), 87.5, 175, or 350 mg/kg on gestational day 10, coincident with the phase of peak teratogenic sensitivity. Besides showing that fluconazole operates under a strict dose-response mechanism, the study identified 175 mg/kg as the lowest observed adverse effect level for cleft palate induction, with 7.6% of the exposed fetuses being affected.     

Application of the mouse exo utero development system in the study of developmental biology and teratology

The mouse exo utero development system is useful for analyzing the roles of molecules or interactions between tissues in the histogenesis of organs after the mid-gestational period. In the article presented here, we review the mouse exo utero development system and its specific modifications depending on different purposes as well as its advantages over and limitations compared to other systems in the study of developmental biology and teratology.     

Conceptual issues in behavioral teratology and their application in determining long-term sequelae of prenatal marihuana exposure

BACKGROUND: Behavioral teratology, particularly as it is applied to the evaluation of cognition and behavior of children beyond the toddler stage, has become an area of burgeoning activity. In the area of drug abuse, children exposed in utero are often at developmental peril because of non-drug pre- and postnatal risk factors that make a causal association between the drug of interest and a behavioral teratogenic outcome increasingly problematic as the child gets older. METHODS: In the first portion of this review, the strategies that behavioral teratologists have undertaken to investigate the putative consequences of in utero exposure are discussed in terms of research design, statistical methods and interpretative approaches. In the second part of the paper, the relatively limited literature dealing with the behavioral teratological consequences of prenatal marihuana exposure, particularly in school age offspring, is reviewed. RESULTS: An emergent theme arising from primarily two longitudinal investigations is that in utero cannabis exposure does not impact upon standardized derived IQ scores but is negatively associated with attentional behavior and visual analysis/hypothesis testing. These findings are interpreted as supporting the hypothesis that, among offspring beyond the toddler stage, prenatal marihuana exposure has a negative influence on aspects of executive function. Executive function is a 'top-down', multifaceted cognitive construct involved in organizing and integrating specific cognitive and output processes over a interval of time and is largely mediated by the late developing, prefrontal region of the brain. CONCLUSIONS: The results and the interpretation of the prenatal marihuana findings are discussed in terms of the behavioral teratogenic effects (or lack of effects) during the various developmental stages of the offspring, the non-unitary nature of executive function, cannabis receptors, and the consequences of chronic marihuana use in the non-pregnant population.     

Prehistory of the Japanese Teratology Society: The pioneers of teratology in Japan and the founders of the Society

ABSTRACT The significant achievements of teratological research in Japan were traced from the beginning of the 20th century to the foundation of Japanese Teratology Society (JTS) in 1961 as a bird's-eye view of the prehistory of JTS. The activities of the leaders of foresight who contributed to establish the JTS and to consolidate its basis for future growth were introduced in chronological order; Japanese pioneers before 1945, early developing stage of research (1948–1954), study groups furnishing the basis of JTS (1955–1961), and the final step for JTS establishment (1960–1961).
Teratological research in Japan was initiated independent of foreign studies and had obtained original findings before World War II. The studies in Japan progressed with their main target the prevention of exogeneous malformations as a feasible approach from the standpoint of practical medicine. Accordingly, a close collaboration between experimental and clinical teratologists, one of the grand traditions of JTS, was in place even before the early stages of JTS foundation.