Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature

Megarbane (2003) reported 2 male cousins, both with consanguineous parents, who presented with severe mental retardation, microcephaly with elongated faces, seizure disorders, short stature, hypertelorism, optic atrophy, ptosis, absent ear lobes, and thin upper lips. A brain MRI of 1 cousin showed only slight bilateral ventricular dilatation and small orbits. Extensive radiologic and laboratory investigations, including karyotypes, of both cousins were normal. Clinical examination and karyotypes of both sets of parents and clinical examinations of the collective 12 sibs were normal. Megarbane (2003) suggested that the disorder may represent a newly recognized autosomal recessive MCA/MR syndrome.