Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 11 families affected by various forms of hypophosphatasia. Nineteen distinct mutations were found, 7 of which were previously reported.

[X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biology].

Unlabelled: Among the many acquired or constitutional causes of chondrodysplasia punctata, the X-linked recessive form is well individualized.

Case Report: A male newborn presented a dysmorphic syndrome with a marked nasal hypoplasia, a macroglossia and a short neck. The diagnosis of chondrodysplasia punctata was made by radiography whereas the chromosomal chart revealed the existence of an additional Y fragment in Xpter, effectuating a partial disomy Yp and a monosomy Xpter.

[Gastroesophageal reflux associated with pseudohypoaldosteronism in a month old child. Report of a family case].

A patient was diagnosed with pseudohypoaldosteronism on the basis of hyponatremia with salt depletion and presence of pseudoaldosteronism in a cousin. Diagnosis was complicated by the fact that the patient had failure to thrive caused partly by gastroesophogeal reflux.

[Ultrastructural heterogeneity in primary ciliary dyskinesia syndrome. A case report].

One of the causes of middle lobe syndrome is primary ciliary dyskinesia. This diagnosis was established in an eight-year-old girl by functional studies of the cilia on bronchial and nasal biopsy specimens. The clinical approach to this disease is emphasized and the technical difficulties raised by the diagnosis are discussed.

[Water deprivation. An uncommon form of child abuse].

The authors report a case of hypernatremic dehydration following chronic water deprivation and very likely salt load as a form of child abuse in a 2 11/12 year-old girl. This uncommon picture often expresses a severely disturbed relationship between parents and child which has to be considered in the family management.