Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome

and hosti g.2013.1 Abstract Background: Miller syndrome is one of the acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs. Case report: A 26 month old male child, the product of healthy nonconsanguineous parents has many typical features of Miller syndrome. He has cleft lip and palate, malar hypoplasia, left crumpled cup shaped ear, and...

Postaxial acrofacial dysostosis (Miller) syndrome.

A Case Report: Nager Acrofacial Dysostosis

Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...

A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review

INTRODUCTION Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, uni...

Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients

Miller syndrome is a recessive inherited disorder characterized by postaxial acrofacial dysostosis. It is caused by dysfunction of the DHODH (dihydroorotate dehydrogenase) gene, which encodes a key enzyme in the pyrimidine de novo biosynthesis pathway and is localized at mitochondria intermembrane space. We investigated the consequence of three missense mutations, G202A, R346W and R135C of DHOD...