Severe short stature, profound microcephaly, developmental brain abnormality, agenesis of optic disc and retinal vessels, and bilateral cryptorchidism in two male siblings;.a new-lethal recessively inherited syndrome

摘要

Microcephaly is an important neurological sign defined as head circumference (HC) more than 2 SDs below the mean for age and sex. It is classically divided into congenital and postnatal types according to the onset of arrest of head growth. Associated malformations, growth retardation, and its severity help in arriving at etiological diagnosis. Microcephaly is genetically heterogenous and includes about 20 genes of microcephaly-seckel spectrum and various single gene syndromic causes. The list is growing fast with the discovery of new genes with exome sequencing (Filges et a/., 2013). Very few cases of profound lethal microcephaly syndromes have been described. We describe such a family with a boy born to a consanguineous couple with microcephaly of prenatal onset, severe postnatal growth retardation, no gain of developmental milestones, characteristic eye findings of agenesis of optic disc and retinal vessels, lymphedema, and hypogenitalism. He had a similarly affected sibling suggesting an autosomal recessive inheritance.