Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome

Abstract

We report on 2 sibs with the Fraser cryptophthalmos syndrome who had pulmonary hyperplasia and laryngeal stenosis. A third unrelated patient with Fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development, rather than the expected pulmonary hypoplasia. Three additional cases of pulmonary hyperplasia in the Fraser syndrome were ascertained from a review. In all of these cases the likely mechanism for pulmonary hyperplasia is retention of fetal lung fluid by laryngeal or tracheal obstruction.

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

“…Cardiac malformations included hypertrophy of the left ventricle, 33 hypertrophic heart, 16 a variant of Ebstein anomaly, 36 coarctation of the aorta, 4 an atrial septal defect, 37 an interventricular communication, 15 and a truncus arteriosus and a ventricular septal defect. 4 One patient had complex heart disease with dysplasia of the pulmonary and aortic valves and endocardial fibrosis.…”

Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature

“…Laryngeal stenosis or atresia is known to be associated with bilateral hyperechogenic and enlarged lungs in fetuses with isolated laryngeotracheal obstruction 30,31 . However, in fetuses with Fraser syndrome it does not necessarily lead to pulmonary hyperplasia as postulated by Stevens et al 9 , but can also be associated with pulmonary hypoplasia as shown in one case by Ramsing et al 4 , one case by Thomas et al 1 and four cases by Boyd et al 6 . Bilateral hyperechogenic lungs can also be caused by CCAML III 32 .…”

Syndromic associations with congenital anomalies of the fetal thorax and abdomen

“…It is now recognised that not all infants with Fraser syndrome have cryptophalmos. Stevens et al (1994) observed pulmonary hyperplasia and laryngeal stenosis in two siblings with Fraser syndrome. Markedly enlarged echogenic lungs may be demonstrable on ultrasound in this condition.…”