We describe two patients with cerebrovascular complications of Ehlers-Danlos syndrome
type IV. A 16-year-old girl with spontaneous internal carotid artery dissection and a 46-year …

Ehlers Danlos syndrome type IV is an often lethal disease caused by various mutations of
type III collagen genes. It presents in infancy and childhood in several ways, and the …

The proband was born spontaneously at term after a pregnancy complicated by mild
toxaemia. Paternal age was 32 years and maternal age 29 years. Birth weight was less than …

The Schinzel-Giedion syndrome is an infrequently described malformation syndrome,
mainly characterized by a profound mental deficiency, a typical face including a midface …

This report describes a retarded girl with strabismus, high arched palate, antimongoloid
slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus …

Six large families with classical Marfan syndrome were studied using markers on
chromosomes 1 and 11. Two of three families tested showed negative scores using D1S7 …

Monozygotic male twins with the Williams-Beuren or'elfin-face'syndrome are described. One
twin showed the typical signs of supravalvular aortic stenosis, which is consistent with the …

Infants and children with achondroplasia are at increased risk of sudden death because of
apneic attacks caused by compression of the medulla oblongata or spinal cord by a …

Congenital muscular dystrophy is a relatively unknown primary myopathy with autosomal
recessive inheritance. The literature on this entity is discussed and augmented with the …