The cardio-facio-cutaneous (CFC) syndrome--two possible new cases and review of the literature.

We report two new patients, a boy and a girl, who show variable but specific manifestations of CFC syndrome. The patients differ in general appearance, severity of skin changes, cardiac involvement and in behaviour. The girl shows some additional clinical features such as easy bruising and altered sensation of the distal part of the limbs, which have never been observed in CFC syndrome, but have been described in a few patients with Noonan syndrome.

A further report of Brachmann-de Lange syndrome in two sibs with normal parents.

We report on a family in which a girl and a boy in the same sibship show variable manifestations of a less severe type of Brachmann-de Lange syndrome without significant prenatal growth deficiency and reduction deformities of the forearms. Both parents are healthy and phenotypically normal, and no other family members are affected. All the affected sibs except one described so far with normal parents presented the severe type of Brachmann-de Lange syndrome (now sometimes classified as type I: "classic" or "full" Brachmann-de Lange syndrome), with major upper limb anomalies, severe growth and mental retardation and, frequently, early death.

Aminopterin Syndrome Sine Aminopterin (ASSA) syndrome in two siblings: further delineation of the syndrome and review of the literature.

In this report we describe two sibs with an unusual and complex pattern of severe malformations resembling Aminopterin Syndrome Sine Aminopterin (ASSA) syndrome, the phenotypic features of which are similar to those of aminopterin embryopathy. Six nonfamilial cases of ASSAS have been published in the literature to date. Our family with two affected sibs of different sexes supports the previous suggestion of autosomal recessive inheritance.

Miller postaxial acrofacial dysostosis. The phenotypic changes with age.

We report data on the clinical and psychological follow-up of a boy with Miller postaxial acrofacial dysostosis syndrome between the ages of 1 and 7 years. After an initial psychomotor retardation intellectual and social function improved significantly after the use of hearing aids (50-70 db bilateral hearing loss). The facial appearance changed with age: the face became asymmetric and triangular with more pronounced ectropion and fine, thin lips.

Pharmacokinetics of mexiletine and its metabolites, hydroxymethylmexiletine and p-hydroxymexiletine, after single oral administration in healthy subjects.

Pharmacokinetics of mexiletine and its major metabolites, p-hydroxymexiletine and hydroxymethylmexiletine, were studied in 10 healthy subjects after administration of a single oral 400 mg dose. Mexiletine was extensively metabolized to hydroxymethylmexiletine and less to p-hydroxymexiletine. Mean metabolic ratio (Rm) was 0.

A rapid HPLC method for plasma and serum mexiletine determination and its use in therapeutic drug monitoring.

A HPLC method for the determination of mexiletine in human plasma and serum is described. Serum or plasma after addition of mexiletine and internal standard was extracted with diisopropyl ether. The extract was then evaporated and dissolved in the mobile phase.

Cardio-facio-cutaneous (CFC) syndrome: report of a new patient.

We describe a girl with the cardio-facio-cutaneous (CFC) syndrome. She presented most of the characteristics of the new multiple congenital anomalies/mental retardation (MCA/MR) syndrome: unusual facial appearance and ectodermal symptoms, that is, abnormal hair and skin, ventricular septum defect, relative macrocephaly with large ventricles and cortical "atrophy," submucous cleft palate, and umbilical hernia. Her twin brother died shortly after birth and may have had the same malformation syndrome.

Determination of amiodarone and its metabolite desethylamiodarone in human plasma and serum.

A liquid chromatographic method for the assay of antiarrhythmic drug amiodarone and its metabolite desethylamiodarone in human plasma or serum has been developed. The method is simple and sufficiently sensitive for pharmacokinetic studies. Amiodarone, desethylamiodarone and added internal standard L 8040 were twice extracted at various pH from serum or plasma.

Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome.

Here we report a 10 year-old mentally retarded, deaf boy with a unique pattern of anomalies: progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes. He represents a variant example of "hyperostotic dwarfism" as delineated by Lenz and Majewski.