HRM characterization of EGJ morphology correlates with the objective demonstration of GERD. Although both LES pressure and LES-CD separation are associated with GERD, the strongest association and the only independent predictor of GERD as a categorical outcome in a logistic regression analysis was impaired CD function as indicated by reduced inspiratory augmentation of EGJ pressure.

Apert (1906) was the first to identify a syndrome characterized by the association of acrocephaly with syndactyly, acrocephalosyndactylism. Since then Apert syndrome has been recognized as a clinical entity. Although hydrocephalus was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for mental retardation in some cases of Apert syndrome. We report a case of Apert syndrome presenting as fetal hydrocephaly at 28 weeks gestational age, and we review the literature. We suggest that hydrocephalus should be considered as a major associated malformation, and a complete evaluation with sonogram and computed tomography scan is recommended in any newborn suspected of having Apert syndrome after routine cephalometric measurement.

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