From the Department of Pediatrics, University of Genoa, Genoa, Italy
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The proband was the second born child of healthy, unrelated white parents (33-year-old mother and 40-year-old father). He was born by cesarean section due to podalic presentation after 39 weeks of uneventful gestation. No teratogen exposure occurred during pregnancy. His Apgar score was 5 at 1 min and 8 at 5 min. The birth weight was 2.780 kg, height 47 cm, and head circumference 32.5 cm (all values at 5th centile). We first observed the proband at the age of 5 months. His weight was 5.420 kg, length 59 cm, and head circumference 40 cm (all values < 5th centile).His face (Fig. 1) was characterized by ocular hypertelorism (interpupillary distance of 5.1 cm and inner canthal distance of 2.78 cm, both values > 97th centile), epicanthal folds, downslanting palpebral fissures, converging strabismus, large (5.4 cm right and 5.2 cm left; both > 97th centile), low-set and downslanting ears, enlarged nasal tip, and prominent upper lip. Multiple (about 40), randomly distributed lentigines were observed ranging in size between 0.2 and 0.5 cm; the sclera and mucosae were spared. Cardiologic examination was normal. Electrocardiograph (ECG) showed an incomplete right bundle branch block. Echocardiography demonstrated partial anomalous pulmonary venous return with the left pulmonary vein draining into the left innominate vein. Upon examination of the genitalia, a shawl scrotum was observed (Fig. 1). Renal ultrasound examination was negative. Behavioral response to sound was inconsistent. Brain stem auditory evoked potentials were compatible with bilateral peripheral hypoacousia and defective truncal conduction. Neurologic examination and motor milestones were within the normal range for his age. Electroencephalograph (EEG) record was normal. Both echography and magnetic resonance imaging (MRI) of the brain demonstrated partial agenesis of the corpus callosum without ectopic gray matter (Fig. 2). Routine laboratory investigation of blood and urine, as well as lactate, pyruvate, ammonia, lysosomal enzyme studies, serum hydrolases, TORCH serology, and karyotype, showed no abnormalities. No other members of the patient's family had any clinical features of the syndrome.