A case of cloverleaf skull (CLS) syndrome with Chiari malformation was reported. The patient developed congenital hydrocephalus, upper airway obstruction and breath holding spells. Ventriculo-peritoneal shunt improved the hydrocephalus, but the patient progressively developed apneic episodes in spite of intubation. Brain magnetic resonance imaging (MRI) disclosed severe Chiari malformation. Laminectomy of the cervical vertebrae and craniectomy at the occipital bone were performed to relieve the brain stem compression. Postoperatively, the respiratory symptoms improved slightly, but 8 weeks later the patient suddenly died. Literature survey revealed that this is the second case report of CLS associated with Chiari malformation. It was assumed that the respiratory problems in our patient are ascribable to the Chiari malformation as well as the upper airway obstruction. The patient here reported seems to be a case of Beare-Stevenson cutis gyrata syndrome, in view of an association of multiple characteristic dysmorphic features, in addition to CLS.