Sahar Saleem

Citation:

Ghada MH Abdel‐Salam, Mohamed S Abdel‐Hamid, S. S. M. K. H. A. M. I. L. E. H. K. M. N. K. F., "Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome", American Journal of Medical Genetics Part A, vol. 158A, issue 8, pp. 1823-1831, 2012.

Abstract:

We describe two sibs with a lethal form of profound congenital microcephaly, intrauterine and postnatal growth retardation, subtle skeletal changes, and poorly developed brain. The sibs had striking absent cranial vault with sloping of the forehead, large beaked nose, relatively large ears, and mandibular microretrognathia. Brain magnetic resonance imaging (MRI) revealed extremely simplified gyral pattern, large interhemispheric cyst and agenesis of corpus callosum, abnormally shaped hippocampus, and proportionately affected cerebellum and brainstem. In addition, fundus examination showed foveal
hypoplasia with optic nerve atrophy. No abnormalities of the internal organs were found. This profound formof microcephaly was identified at 17 weeks gestation by ultrasound and fetal brain MRI helped in characterizing the developmental brain malformations in the second sib. Molecular analysis excluded mutations in potentially related genes such asRNU4ATAC,SLC25A19, and ASPM. These clinical and imaging findings are unlike that of any recognized severe forms of microcephaly which is believed to
be a new microcephalic primordial dwarfism (MPD) with developmental brain malformations with most probably autosomal recessive inheritance based on consanguinity and similarly affected male and female sibs.