Zimmermann-Laband syndrome: further clinical delineation.

Zimmermann-Laband syndrome (ZLS) is an autosomal dominant disorder characterized by gingival fibromatosis, absent or dysplastic distal phalanges, vertebral defects, hepatosplenomegaly, hypertrichosis and sometimes mental retardation. We describe two unrelated patients, a girl aged 9 years and a boy 11 months whose clinical and radiological findings permit us to diagnose the ZLS. Body overgrowth, present in both patients, was identified as a main clinical feature not previously reported as well as the presence in neuroimaging studies of a cavernous hemangioma on the frontal and the left cerebellar regions in the boy.

A variant example of familial Floating-Harbor syndrome?

The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, thin lips. Four cases with celiac disease have been described previously. In two other cases, autosomal dominant inheritance has been suggested.

Ring-20-syndrome and loss of telomeric regions.

A patient aged 10 years and 8 months with a ring-20-syndrome was studied. Clinically he presented normal psychomotor development until 25 months of age when he began with right simple partial motor seizures. He presented minimal dysmorphism, generalized tonic-clonic seizures refractory to medical therapy and behavioral troubles.

Transitory cognitive impairment in epileptic children during a CPT task.

EEGs and behavioral responses were studied in two sex matched groups of 58 epileptic and 20 healthy children between 8 and 12 years of age, during the execution of a go-no go CPT (X; A-X) task to determine transitory cognitive impairment (TCI) incidence. Paroxysmal discharges were found on 87.9% and 5% of the EEGs in the epileptic and control groups respectively, with no differences related to sex.