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Clinico-radiological assessment of three mentally retarded members of a large Bedouin kindred showed lissencephaly, spastic paraparesis, myoclonic epilepsy and cerebellar hypoplasia. It seems that the familial association of lissencephaly/myoclonic epilepsy/cerebellar hypoplasia represents a new entity.
The clinical and radiological features of a patient with Cutis Verticis Gyrata-Mental Deficiency syndrome are reported. The clinical features of the patient included severe mental retardation, drug resistant epilepsy, short stature, microcephaly with multiple furrows on the scalp and normally growing overlying hair. He was blind with bilateral optic… (More)
We describe 2 unrelated Bedouin girls who met the criteria for the diagnosis of Kenny-Caffey syndrome. The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by macrocephaly and normal intelligence. The… (More)