Acrofacial dysostosis of Nager and ocular abnormalities.
نویسندگان
چکیده
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.
منابع مشابه
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...
متن کاملLimbal dermoid in Nager syndrome acrofacial dysostosis: A rare case report.
Nager syndrome, also called preaxial acrofacial dysostosis, comprises two groups of defects involving the limbs and craniofacial region, respectively. This syndrome is rare and only 70 cases have been reported in the literature. The exact cause of this syndrome is unknown, but there is indication that it is genetically based. Ocular manifestations of this syndrome include widely separated downw...
متن کاملPrenatal 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...
متن کاملThe Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.
A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome.
متن کاملPreaxial acrofacial dysostosis (Nager syndrome): a case report
This case report describes the surgical and dental management of a 12-year-old girl with preaxial acrofacial dysostosis also known as Nager syndrome. It highlights the importance of multidisciplinary treatment at an early age and the effect of parental noncompliance on the overall physical and psychological development of a medically compromised patient.
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ورودعنوان ژورنال:
- Ophthalmic paediatrics and genetics
دوره 7 2 شماره
صفحات -
تاریخ انتشار 1986