Fryns syndrome is a lethal, autosomal recessive syndrome of multiple c
ongenital anomalies described by Fitch et al. in 1978 and Fryns et al.
in 1979. As originally described, the major diagnostic criteria inclu
ded abnormal facies; small thorax with widely spaced, hypoplastic nipp
les; distal limb and nail hypoplasia; and diaphragmatic hernia with pu
lmonary hypoplasia. Malformations involving other systems occurred irr
egularly in published reports. We reviewed 41 published cases of Fryns
syndrome and added 4 cases of our own. The major diagnostic criteria
described by Fryns were consistent in all cases with the exception of
two criteria. Narrow thorax with hypoplastic nipples and gastrointesti
nal anomalies were present in less than 50 % of the cases. Although fo
r 16 of the 41 published cases there was no information on central ner
vous system findings, 21 of the 29 remaining cases (72 %) had CNS malf
ormations. These lesions were absence of corpus callosum, arhinencepha
ly, and heterotopia of cerebral and cerebellar tissue. Similarly, for
12 of the 41 published cases there was no information on cardiovascula
r findings but 29 of the 33 remaining cases (88 %) had congenital hear
t disease. These lesions were ventricular septal defects, atrial septa
l defects, and persistent left superior vena cava. We conclude that ce
ntral nervous system anomalies and congenital heart disease should be
added to the major diagnostic criteria of Fryns syndrome.