Cutis Laxa, Neonatal, With Marfanoid Phenotype

Clinical Features

Bonneau et al. (1991) described an infant with cutis laxa, emphysema, striking cardiac abnormalities, and a diaphragmatic hernia, leading to death at the age of 22 weeks. The infant had mild contractures at the elbows, hips, and knees, with bilateral hip dislocation. Arachnodactyly was striking. Bonneau et al. (1991) called the condition neonatal cutis laxa with marfanoid phenotype. Bonneau et al. (1991) pointed to reports of some 12 cases of neonatal 'Marfan syndrome' which might represent this same syndrome. These included the cases of Neimann et al. (1968), Hohn and Webb (1971), Lababidi and Monzon (1981), Buchanan and Wyatt (1985), Day and Burke (1986), and Gross et al. (1989).

Cytogenetics

In the patient studied by Bonneau et al. (1991), chromosome studies showed a chromatid break at the junction of 7q31.3 and 7q32. They noted that among 17 previously reported cases with the same syndrome, 1 was found to have a translocation involving 7q31 (Huret et al., 1991).

Biochemical Features

The clinical features and the location of the chromosomal change in patients with this phenotype prompted Bonneau et al. (1991) to study laminin, which, by use of anti-human laminin antiserum, was found to be absent from the basement membranes of capillaries and the dermal-epidermal junction. Fibronectin (135600) was also not detected in the skin sample. Laminin B1 (150240) maps to the same region of 7q. In a note added in proof, Bonneau et al. (1991) stated that studies of the case published by Neimann et al. (1968) showed deficiency of laminin in the basement membranes.