BACKGROUND Goltz syndrome is a rare, genetic disorder mainly occurring in female patients. CASE PRESENTATION The case presented here is, to the best of our knowledge, the first description of the occurrence of lung parenchymal alterations in a young female patient affected by Goltz syndrome. Although pulmonary involvement is not known in patients affected by X-linked Goltz syndrome, the case ...

In the presence of nitrate, the major anaerobic respiratory pathway includes formate dehydrogenase (FDH-N) and nitrate reductase (NAR-A), which catalyze formate oxidation coupled to nitrate reduction. Two aerobically expressed isoenzymes, FDH-Z and NAR-Z, have been recently characterized. Enzymatic analysis of plasmid subclones carrying min 88 of the Escherichia coli chromosome was consistent w...

A folate enzyme, FDH (10-formyltetrahydrofolate dehydrogenase; EC 1.5.1.6), is not a typical tumour suppressor, but it has two basic characteristics of one, i.e. it is down-regulated in tumours and its expression is selectively cytotoxic to cancer cells. We have recently shown that ectopic expression of FDH in A549 lung cancer cells induces G1 arrest and apoptosis that was accompanied by elevat...

A child with brachymesophalangy and postaxial postminimal polydactyly was found also to have dermal ridge dissociation and ridge hypoplasia. She was the second child of unaffected, unrelated parents and was born after a normal pregnancy and delivery. No previous report of a similar combination has been traced.

Gorlin-Goltz syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is an infrequent multisystem disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterised by keratocystic odontogenic tumours (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed ear...

Cochlear nerve (CN) aplasia refers to the absence of a visible CN on oblique sagittal magnetic resonance images of the lateral aspect of the inner auditory canal (IAC). Magnetic resonance (MR) is the preferred technique in patients with sensorineural hearing loss and/or vertigo; however, computed tomography (CT) is used to evaluate the IAC or facial nerve canal. Three types of aplasia or hypopl...

cochlear nerve (cn) aplasia refers to the absence of a visible cn on oblique sagittal magnetic resonance images of the lateral aspect of the inner auditory canal (iac). magnetic resonance (mr) is the preferred technique in patients with sensorineural hearing loss and/or vertigo; however, computed tomography (ct) is used to evaluate the iac or facial nerve canal. three types of aplasia or hypopl...

BACKGROUND Oculocerebrocutaneous syndrome (OCCS) is characterised by orbital cysts and anophthalmia or microphthalmia, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations. The eye and skin abnormalities are well described but the neuropathological features less so. To date, 28 patients with an unequivocal diagnosis of OCCS have been reported, with a preponderanc...