[Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia]. / Evolución clínica, radiológica y auxológica a largo plazo de 8 niños con displasia torácica asfixiante.

UNLABELLED: Asphyxiating thoracic dysplasia is an uncommon condition with multiple organ affectation and high neonatal mortality. It presents with short stature, short extremities, narrow thorax. With growth, there is respiratory improvement, but emergence of renal, hepatic, pancreatic and/or retinal impairment. OBJECTIVE: to describe the long-term evolution of 8 patients of a pediatric hospital. METHODS: we retrospectively evaluated age at diagnosis, sex, anthropometric variables, complications and radiology. RESULTS: male/female 6/2. Median age at diagnosis: 2.54 years. EVOLUTION: 8/8 respiratory compromise, 3/8 kidney, liver 2/8, 1/8 ophthalmologic, cardiac 1/8. Median height at diagnosis -1.76 DS, normal postnatal growth and body proportions. Radiology: 8/8 narrow chest and brachyphalangia in hands. 5/8 acetabular abnormalities. DISCUSSION: for surveillance it is recommended to monitor renal, liver and eye function. The pediatrician should suspect this entity in a newborn with narrow thorax and respiratory distress.

[Chondroectodermal displasia (Ellis-van Creveld syndrome)]. / Displasia condroectodérmica (síndrome de Ellis-van Creveld).

The present paper describes a case with clinical and radiological characteristics of Ellis-van Creveld syndrome. He was the first offspring from non-consanguineous parents. We comment the differential diagnosis between chondroectodermal dysplasia with types of dwarfism for genetic conseling purposes.

[Acrodysostosis]. / Acrodisostósis.

Two unrelated males of 16 and 8 years of age with acrodysostosis were studied. They showed short stature, broad and hypoplastic nose and severe acromelic shortness. X-ray studies revealed bilateral brachymetacarpaly, brachymetatarsalia and brachyphalangia with hyperplasia of the first ray in hands and feet. Psychometric studies revealed an IQ of 85, the highest observed in the 22 cases so far reported. The variable expressivity of the syndrome is discussed on this basis. The hypothesis of an autosomal dominant "de novo" mutation as the cause of the entity is supported by the finding of increased paternal age.

Ellis-van Creveld syndrome. An inbred kindred with five cases.

Five additional cases of a kindred with inbred Ellis-van Creveld syndrome are reported. Ectodermal dysplasia polydactyly, chondroectodermal dysplasia and possibly congenital heart diseases were present in all our cases. Cephalometric radiographs from one patient showed an enlargement of the mentum-groove-labial distance. The diagnosis of two individuals was performed by clinical and radiological examinations. An autosomal recessive mode of inheritance is strongly suggested by their pedigree.