I have got a baby with what looked like a Fryns syndrome with diaphragmatic eventration, coarse facies-broad nasal bridge, frontal bossing,retrognathia, thick lips, terminal digital hypoplasia especially over the 4th and 5th digits, cardiac dextroposition with small ASD, 13 pairs of ribs + vertebral malsegmentation, unable to retain with laporotomy done - pyloric hypertrophy + common mesentery and agenesis of corpus callosum + cerebellar hypoplasia. No cleft palate, no structural renal anomalies, no broad medial ends of clavicle. Karyotype 46 XX Baby is now 3 month old on ventilator - cannot feed and cannot wean off the respirator -?pulmonary hypoplasia. The diaphragmatic eventration disappeared on subsequent CXRs and the abdominal aspect of the diaphragm appeared normal during laprotomy. The diaphragmatic eventration is thought to be due to transient phrenic nerve injury. I would appreciate your comments and views on this "disappearance" of the diagragmatic eventration and what implication it has on the diagnosis of Fryns?
Apparent patient location: Singapore