We identified nine individuals from three unrelated Turkish families with a unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). We later demonstrated three different homozygous mutations (p.S156P, p.R104X, and p.V206SfsX117) in the fibroblast growth factor 3 (FGF3) gene in affected members of these families, cosegregating with the autosomal recessive transmission as a completely penetrant phenotype. These findings demonstrate the involvement of FGF3 mutations in a human malformation syndrome for the first time and contribute to our understanding of the role this gene plays in embryonic development. Of particular interest is that the development of the inner ear is completely disturbed at a very early stage--or the otic vesicle is not induced at all--in all of the affected individuals who carried two mutant FGF3 alleles.

During the 10-yr study period, 16 patients were diagnosed with childhood-onset SLE. Five of them (31%) had pulmonary involvement including acute lupus pneumonitis, invasive pulmonary aspergillosis, cytomegalovirus pneumonia and pulmonary haemorrhage (in two patients). These 5 patients with lupus lung disease are presented in more detail.

Neonatal suppurative parotitis (NSP) is an uncommon disease. Information about the etiopathogenesis and management of the disease is very limited. Here, we describe a newborn who developed NSP due to Pseudomonas aeruginosa and who was treated successfully with antibiotics.

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Abdominal confluence of lymphatics seems to be present on most of the heavily T2-weighted images. Its morphologic details and extensions can be visualized on images reconstructed with a maximum-intensity-projection algorithm. Any disorder does not necessarily lead to dilatation of these lymphatic structures.