A boy, born with a soft cranium, had symmetrical defects in the parietal bones, small head, triangular face, micrognathia, small mouth, downslanted palpebral fissures, arched eyebrows, short webbed neck, branchial fistulae, and sensorineural deafness. This case-report from the Children’s Memorial Health Institute, Warsaw, Poland, and the Royal Alexandra Hospital for Children, Sydney, Australia, represents a unique branchio-oto syndrome with skeletal abnormalities including foramina parietalia permagna. [1]

COMMENT. My colleagues in radiology, who were familiar with the coincidental and occasional finding of large symmetrical posterior parietal skull defects in skull X-rays, referred me to Theodore Keats’ “Atlas of Normal Roentgen Variants,“ (Chicago, Year Book Med Publ, 1988). “Foramina parietalia permagna“ may occur sporadically, as an inherited dominant trait, or as part of various branchial syndromes. The authors conclude that this case report represents a new branchial syndrome.

In an editorial comment [2], Rauch A, Opitz JM, and Walker D opine that, based on our extensive recent experience, the patient has the FG syndrome, an X-linked recessive syndrome of multiple congenital abnormalities and mental retardation, as described by Opitz and Kaveggia in 1974 . However, the Chrzanowska syndrome emphasizes the parietal bone defects and branchial arch fistulae, anomalies that appear to be absent in all but one of the FG syndrome cases. Perhaps the appellation, Opitz-Chrzanowska (OC) syndrome would be a more appropriate compromise.

In addition to genetic aspects of congenital syndromes, the importance of environmental factors is apparent from the following report.

Mobius’ syndrome and misoprostol attempted abortion. In a study at the Fetal Diagnosis and Treatment Centre, University of Toronto, Canada, among mothers of 96 infants with Mobius’ syndrome, 47 (49%) had used misoprostol in the first trimester of pregnancy, as compared with 3 (3%) mothers of 96 infants with neural-tube defects as controls. Attempted abortion with misoprostol increases risk of Mobius’ syndrome in infants. [3]