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At least 289 records · Page 16Linked to original sources
PubMed1952

[Cranial dysostoses].

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Craniofacial Abnormalities↗
PubMed1995

Multiple defects and perinatal death in mice deficient in follistatin.

Follistatin, an activin-binding protein and activin antagonist in vitro, can bind to heparan sulphate proteoglycans and may function in vivo to present activins to their receptors. In the mouse, follistatin messenger RNA is first detected in the deciduum (on embryonic day 5.5), and later in the developing hindbrain, somites, vibrissae, teeth, epidermis and muscle. In Xenopus laevis, overexpression of follistatin leads to induction of neural tissue. Here we use loss-of-function mutant mice to investigate the function of follistatin in mammals. We find that follistatin-deficient mice are retarded in their growth, have decreased mass of the diaphragm and intercostal muscles, shiny taut skin, skeletal defects of the hard palate and the thirteenth pair of ribs, their whisker and tooth development is abnormal, they fail to breathe, and die within hours of birth. These defects are more widespread than those seen in activin-deficient mutant mice, indicating that follistatin may modulate the actions of several members of the transforming growth factor-beta family.

Animals↗
PubMed1981

Congenital malformations and maternal occupation in Finland: multivariate analysis.

The Finnish Register of Congenital Malformations was used in a multivariate analysis to explore the associations between maternal occupation in industry and children born with central nervous system (CNS) or musculoskeletal or oral cleft malformations. Possible confounding factors were selected in preliminary screening of risk indicators for malformations. These factors included characteristics of the mother, the child, and the family; maternal illnesses; an maternal medication at the time of pregnancy. Tobacco smoking was a confounding factor for all type of malformations; number of children born to the mother, maternal age, malformations in the family, number of rooms occupied by the family, sex of the child, threatened abortion, and continuous medication of the mother during the first trimester confounded the association for certain type of malformations. After adjusting for confounding factors, maternal occupation in industrial trades significantly correlated with CNS, oral cleft, and musculoskeletal malformation in the offspring. Maternal occupation in industry and construction only was significantly associated with CNS malformations in the offspring but the associations with oral cleft and musculoskeletal malformations were not significant.

Adult↗
PubMed1996

[First experience with the surgical treatment of young infants with congenital pathology of the locomotor system].

The authors have revised traditional principles of treatment of children with a congenital pathology of the locomotor system. Early treatment has been shown to be necessary beginning from infancy since the operations have a more favourable course. Normal anatomo-physiological correlations of the locomotor system are being formed from the early days and months of the infants. Good immediate results were obtained in 22 children. The authors recommend to establish terms of the operative interventions for orthopedic abnormalities immediately after birth in the maternity home.

Abnormalities, Multiple↗
PubMedDate not supplied

[The immediate and late results of radiation effects on the occurrence of congenital defects in the locomotor apparatus based on screening data on newborns in the maternity hospitals of the city of Kiev].

On the basis of screening of 15939 newborns at the maternity homes of Kiev after the accident at the Chernobyl atomic station it was found that the number of children with congenital malformation of the locomotor apparatus in 1991-1992 increased by 28.7% as compared with the data of the first postaccident years (1986-1987). Congenital pathology of the hip joint (dysplasia in average 23.5 per 1000 births, hip dislocation 3.6:1000) and foot deformity (7.9:1000) had the highest incidence with a tendency to increase at the latest years.

Abnormalities, Radiation-Induced↗
PubMed1993

Differentiation of systemic juvenile rheumatoid arthritis from acute leukemia near the onset of disease.

Many children with acute leukemia have musculoskeletal complaints and non-specific hematologic abnormalities. A total of 10 children with acute leukemia and 10 with systemic juvenile rheumatoid arthritis were compared to delineate which early features could differentiate these diagnoses. Attention to evolving hematologic abnormalities and musculoskeletal findings may expedite diagnosis of these diseases.

Arthritis↗
PubMed2002

A classification for genetic disorders of interest to orthopaedists.

The genetic etiology of many disorders of interest to the orthopaedist now is known. Based on this information, these disorders can be grouped broadly based on the function of the causative gene into five categories: structural, tumor and cell regulatory, developmental, important in nerve or muscle function, and protein processing (enzymes). In addition, some disorders are caused by large chromosomal abnormalities, which comprise a sixth class. Disorders in each of these categories share similarities in their clinical manifestations, treatment, prognosis, and inheritance pattern. This classification is a useful way to remember the major clinical manifestations and treatment principles for genetic disorders of interest to the orthopaedist.

Chromosome Aberrations↗