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In this report we describe the unusual manifestation of fibrous dysplasia of rays IV and V of the right hand and of rays III-IV of the left hand in a 12-year-old normal girl. The first symptoms of localised macrodactyly became progressively evident from the age of 8 years on.

We report 3 non related patients with severe hypoplasia/aplasia of the thumb with an ipsilateral synostosis of the fourth and fifth metacarpals. A review of few reports on this unusual association is presented and the possible pathogenetic mechanism is discussed.

We report on a girl with congenital scalp and acral reduction limb defects, consistent with the diagnosis of Adams-Oliver syndrome. The presence of constriction rings makes the limb anomalies in this case similar to those seen in the amniotic band disruption sequence. Vascular disruption--with or without secondary amniotic rupture--may be responsible for the observed anomalies. Therefore we believe that the present observation adds further evidence for the hypothesis that the Adams-Oliver syndrome is a vascular disruption sequence.

Osteopathia with cranial sclerosis (OS-CS) is an autosomal dominant condition, which is characterized by typical radiological changes of the skull and the long bones, in association with a wide variety of clinical symptoms. A family is reported with at least three affected individuals. One of them, a young women and her husband asked for a preconceptional advice, but the highly variable expressivity, as documented by this family, made it very difficult to counsel them properly.