Neurological Syndromes Case 25

Onset about 1 week old:

Palpebral fissures with abnormal slanting
Ears low-set
Mouth: vermillion border (red of lips) thin
Heart (cardiac) disease, structural, valvular or septal defect (ASD, VSD)
Hypogonadism, hypogenitalism or cryptorchidism (testes undescended)
Renal (kidney) stones (nephrolithiasis, nephrocalcinosis)

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