Features of both the Goldenhar and the Caudal
Regression Syndromes are observed. Antenatal period anomalies are frequent
and often associated with oligoamnios and prematurity. Patients present with
short stature and neurological anomalies (cerebral cortex atrophy,
hydrocephalus). Neonatal lesions can include diaphragmatic hernia,
omphalocele, and tracheoesophageal fistula. Orthopedic features are multiple:
scoliosis, short neck, skeletal, vertebral and joint anomalies, sacrococcyx
agenesia, talipes varus or valgus. Facial deformations are also frequent
with micrognathia, facial structural asymmetry, preauricular tags, and
thickened gingivae. Other signs concern digestive organs (hiatal hernia,
anus, spleen, liver, biliary and gastrointestinal tract anomalies), and
genitourinary structures (abnormal bladder and genitalia ectopic,
horseshoe-shaped or fused kidney, megaureter). Hypoplastic lungs and
ventricular septal defects are also present in some cases.