Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement

Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement.

Nager acrofacial dysostosis is a rare form of acrofacial dysostosis first described by Nager and de Reynier, 1948. It is characterized by mandibulofacial dysostosis and limb anomalies. Typical craniofacial findings include down-slanting palpebral fissures, malar hypoplasia, micrognathia, abnormalities of the palate including high-arched hard palate, cleft palate or bifid uvula, small, low-set a...

Acrofacial dysostosis 1, Nager type

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 inheritanc...

Autosomal recessive inheritance of Nager acrofacial dysostosis.

Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a dis...

Acrofacial dysostosis of Nager and ocular abnormalities.

Acrofacial dysostosis of Nager is a little known hereditary syndrome in which the findings of mandibulofacial dysostosis are associated with defects of the limbs. The present case showed other abnormalities including the Stilling-Turk-Duane syndrome, conductive deafness and ptosis of the transverse colon.