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Trichothiodystrophy is a neuroectodermal syndrome with features of a specific hair dysplasia associated with disorders in organs derived from ectoderm and neuroectoderm. The key finding is brittle hair with low sulfur content. Polarizing microscopy shows alternating dark and light bands with trichoscisis and absent or defective cuticle. Patients with trichothiodystrophy have short, sparse, dry and easily broken hair. Growth retardation and mental retardation are almost obligatory findings. The skin and the nails are very often affected; other neuroectodermal disorders are associated, but none is a constant feature. The disease is transmitted as an autosomal recessive trait.

During 1988 and 1989, a regional cohort of 81 infants with birth weights less than 1501 g were treated with oxygen only (n = 11), early continuous positive airway pressure (CPAP) (n = 68) or mechanical ventilation from birth (n = 2). We used an easily applicable lightweight CPAP system with nasal prongs and a gas jet supplemented with ventilator treatment if necessary, but with conservative criteria for ventilator treatment with tolerance of high PCO2. A total of 65 infants (80%) survived to discharge, 61 of whom were supported solely with CPAP or oxygen. Nineteen infants (26%) developed periventricular-intraventricular haemorrhage, but only 4 survivors (6%) developed prognostically significant bleedings grade 2-4. No survivors had bronchopulmonary dysplasia. Follow-up at 12-39 months of age revealed definite disabilities in 6 (10%) and suspected disabilities in 2 of 62 long-term survivors. The results suggest that treatment by early CPAP with nasal prongs with tolerance of high PCO2 may be effective and lenient in most infants more than 25 weeks' gestation.

Prevalence of progressive muscular dystrophy in 1965 and incidence in Denmark for the period 1965 to 1975 was studied by collection of data from hospital departments, nursery homes and general practitioners. This material was supplemented with information from death certificates and disablement pension records. Total patient group included 445 patients with progressive muscular dystrophy alive January 1st 1965. Prevalence was 69.4 per 10(6) male inhabitants in the Duchenne type, whereas the prevalences in the limb-girdle and facioscapulohumeral types were 36.5 and 18.6 per 10(6) inhabitants, respectively. Incidence was 222 per 10(6) male newborns in the Duchenne type, 66 and 26 per 10(6) newborns for the limb-girdle and the facioscapulohumeral types, respectively. Figures for the Duchenne type are in agreement with previous results. Both prevalence and incidence rates for the limb-girdle and the facioscapulohumeral types exceed published figures by a factor 3 to 6. These high Danish rates seem to reflect the true prevalence and incidence in the less serious types of progressive muscular dystrophy, probably because the Danish health system with free medical care and easy access to specialized hospital departments makes it possible to identify all cases of progressive muscular dystrophy.