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Life expectancy and causes of death in the Marfan syndrome.
Abstract The Marfan syndrome is a dominantly inherited disorder of connective tissue with multisystem involvement. The cardiac complications, particularly aortic dilatation, dissection and rupture ...
Parental age effects on the occurrence of new mutations for the Marfan syndrome
This study confirms the elevated paternal age on the basis of 23 additional new mutations for the Marfan syndrome on theBased on evidence presented in Lynas (1958), the mean age of the fathers of these affected children was significantly elevated. Expand
The marfanoid hypermobility syndrome.
Abstract A patient had the marfanoid habitus but no evidence of evolvement of the aorta or dislocation of the lenses. This was associated with extreme, generalized hypermobility of the joints and m...
Achondroplasia—a genetic and statistical survey
Achondroplasia is the commonest form of skeletal dysplasia leading to dwarfism and a new mutation is thought to be the cause of over 80 yo of cases, less than 20 yo being familial. Expand
Prenatal Diagnosis of Bilateral Renal Agenesis
Clinical observation and serial ultrasonography scans made it possible to diagnose BRA prenatally in a fetus at risk, and postmortem examination confirmed the diagnosis. Expand
Prenatal diagnosis of renal anomalies.
Biochemical and radiographic studies provided results consistent with the suspected diagnoses of Meckel syndrome, Roberts syndrome, and bilateral renal agenesis and the importance of providing genetic counseling and prenatal diagnosis to families at risk is emphasized. Expand
Familial spontaneous pneumothorax
The suggestion is made that at least some cases of spontaneous pneumothorax are genetically determined. Expand
The wrist sign. A useful physical finding in the Marfan syndrome.
The thumb sign is elicited by having the patient make a fist over the clenched thumb, but this sign is negative in a sufficiently high proportion of patients with the Marfan syndrome as to reduce its usefulness when used alone. Expand
A linkage study of the Marfan syndrome 1
Fifteen kindreds informative for linkage between the Marfan syndrome locus and 18 genetic marker loci were studied between 1969 and 1972, and results of hand and computer analysis of the data are reported here. Expand