Hexadactyly
National Institutes of Health
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A 35-year-old male patient with hexadactyly on the right hand and both feet presented with multiple basal cell carcinomas of the…
An autopsy case of a patient with diffuse brainstem glioma associated with Laurence-Moon-(Bardet-)Biedl syndrome is described…
A case of Ellis van Creveld syndrome is described in which, in addition to all the major features constituting the tetrad of…
Abstract.Familial idiopathic nephrotic syndrome is rare. Only about 3% of patients have affected siblings. The association of…
Mesomelic dysplasia is a form of short-limb dwarfism characterized by disproportionate shortness of the middle segment of all…
We describe a 30-year-old patient with acanthosis nigricans, diabetes mellitus with insulin resistance, hypogonadotropic…
The Groupe de Cytogénéticiens Français collected 32 cases of Robertsonian translocations with an abnormal phenotype of which 21 t…
SummaryThree cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included…
SummaryThree cases with different forms of incomplete trisomy 13 are described; 1 was mosaic and 2 were partially trisomic for…
A proband girl was investigated because of a congenital heart defect and hexadactyly. Her brother and sister died in early…