NIPBL and Cornelia de Lange syndrome: This patient had a relatively typical clinical phenotype consistent with the NIPBL genotype: dysmorphic facial features, short neck, occipital skin thickening, upper limb deformities, polytheism, cryptorchidism and micropenis; in addition, the more severe manifestations of the patient may be closely related to nonsense variants caused by the NIPBL gene variant, as was previously described, various gene dosage variants in the gene usually differ in the severity of the CdLS phenotype.