[Sex chromosome abnormality: report of three clinical cases of X pentasomy].

Pentasomy X cases are very few. In this study we describe three clinical cases (two newborn children and a girl in puberal age) of females showing a 49, XXXXX cariotype. The salient phenotypic characteristics of these cases (heart defects, growth deficiency, craniofacial and hand abnormalities) are compared to the clinico-pathological data described in literature.

Prenatal diagnosis of kyphomelic dysplasia.

Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and bowing of the limbs, narrow chest, 11 ribs and metaphyseal flaring. Mental development is generally normal. We report the in utero ultrasound appearances and post-mortem radiographic findings of a 22-week-old male fetus suggestive of KD.

[Hypophosphatasia: a family study].

Diagnostic pathway and 5-years follow-up of a case of childhood-form hypophosphatasia (a severe form of vitamin D resistant rickets) are described. Family study led to the identification of five affected relatives (father, sister, paternal uncle, first-cousins), two with severe clinical evidence. Inheritance pattern in this family is compatible with autosomal dominant transmission.