We have restudied a fibroblast cell line from a female with marked manifestations of X linked hypohidrotic ectodermal dysplasia (HED) and a balanced X;9 translocation. Chromosome analysis showed a karyotype of 46,X,t(X;9)(q13.1;p24) with an Xq breakpoint distal to the one previously reported. The significance of the cell line, previously unrecognised, for the mapping and eventual cloning of the...

We report a case of a lower lid ectropion with ectodermal dysplasia and ectropion blepharoplasty surgery experience. A 14-year-old Han nationality male patient with typical characteristics of hypohidrotic ectodermal dysplasia presented to our clinic for his right lower lid eversion. The patient was diagnosed as having hypohidrotic ectodermal dysplasia and underwent an uneventful blepharoplasty ...

Alexander Kutz ([email protected]) Eva Grolimund ([email protected]) Mirjam Christ-Crain ([email protected]) Robert Thomann ([email protected]) Claudine Falconnier ([email protected]) Claus Hoess ([email protected]) Christoph Henzen ([email protected]) Werner Zimmerli ([email protected]) Beat Mueller ([email protected]) Philipp Schu...

A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.

While the basic nature of irony is saying one thing and communicating the opposite, it may also serve additional social and emotional functions, such as projecting humor or anger. Emoticons often accompany irony in computer-mediated communication, and have been suggested to increase enjoyment of communication. In the current study, we aimed to examine online emotional responses to ironic versus...

Concurrent occurrence of occipital dysplasia and occipital hypoplasia in two dogs is described in this report. Occipital hypoplasia results in reduced volume of the caudal fossa, leading to overcrowding of the neural structures and, in severe cases, development of syringomyelia. In occipital dysplasia, there is a failure of complete ossification of the supraoccipital bone. When the two conditio...

Editor's note: Apart from some minor changes, the following article is a translation of the text of a lecture delivered, in German, at the Carl Friedrich von Siemens Stiftung, Munich, on May 7, 1981, and, in a slightly modified form, as the first of three "'Pauli-Vorlesungen", on February 1, 1982, at the Federal School of Technology, Zurich. The Intelligencer requested permission from the autho...

SUMMARY Florid cemento-osseous dysplasia (FCOD) is commonly seen in black women, but few cases have been reported in sub-Saharan Africa. This article presents two cases of FCOD seen at the University College Hospital Ibadan. Two women aged 70 and 60 years were initially diagnosed as chronic osteomyelitis but both were eventually diagnosed as florid cementoosseous dysplasia after radiological ex...

Hypohidrotic ectodermal dysplasia has been mapped to Xq11-q13 by linkage studies and by a translocation in a manifesting female. We report a family with hypohidrotic ectodermal dysplasia in which the disease did not segregate with this region of the X chromosome as expected. Ten DNA probes which are localised between Xp11 and Xq22 were used in the investigation. The difficulties in diagnosing t...

We describe the first Congolese case of Greenberg Skeletal Dysplasia. Were noted at birth a congenital hydrops, a chondrodystrophy, a severe hypoplastic face as well as an ulnar (postaxial) hexadactyly on all four limbs.