[Perturbations of early interrelations. Maternal pathology and children of risk].
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to P Tridon.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The authors report the case of a 10-year-old girl who died after suffering from severe erythromelalgia combined with digestive and general disorders associated with multiple vegetative disturbances (high blood pressure, hypothermia, colic and urinary disorders, raised catecholamine levels) for 2 years. Although the appearance of the tongue was normal and in spite of the absence of genetic criteria the diagnosis of Riley-Day dysautonomia was made and its association with neural crest disorders was indicated.
The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male-to-male transmission, suggests an X-linked inheritance. The paper describes seven families from five European Centers.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The observed cases deal with six generations. The penetrance is there complete and the male diseases more frequent. The fifth generation shows infantile and youth disease that proceed from fatherly transmission during several generations. The anticipation is discussed, as well as possible genetic counselling and the psychological effects upon mothers.
A t(X;9)(p11;q34) is reported in a girl with incontinentia pigmenti (IP). The X breakpoint is at p11.21. Although no similar case has been reported, this breakpoint may be significant insofar IP is considered an X-linked dominant mutation and could be of help in a specific X DNA probes study.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The more frequent practise of X-ray examination shows that symphalangism may be involved by other synostosis. Maroteaux described in 1972 "multiplex synostosis disease". Seven personal cases (all female) in two families are described with particular problem of deafness and vertebral fusion. Dominant autosomic inheritance.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Three cases of unusual traumatic spinal cord injuries are reported. The cases were referred to the neurosurgical unit of Nancy, one tetraplegia and one paraplegia caused by transfixing wounds which were overlooked after the injury. The transfixing wound caused an associated meningitis with tetraplegia, and in the second case the initial small plural effusion associated with paraplegia even, in a very short while, evoked a possible diagnosis of leukaemia amongst others, until the knowledge of trauma had been ascertained, the child being then immediately transferred to the neurosurgical unit. Spanking, in the last case, was the cause of an important luxation of T12-L1, at first with a complete paraplegia, and was associated with the fact that the child was only seen a few days after by a doctor and immediately referred. The child made a full recovery from his paraplegia.