Acrofacial dysostosis suggesting Nager syndrome in newborn – Diagnostic and therapeutic difficulties

Loroch, Anna; Kaik, Joanna; Piersiala, Krzysztof; Hjellbakk, Hedda Kloster; Szymankiewicz, Marta; Gadzinowski, Janusz; Glazar, Renata; Szpecht, Dawid

doi:10.1016/j.pepo.2017.04.003

Cited by 2 publications

(1 citation statement)

References 17 publications

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“…Breathing difficulties may require tracheostomy. multidisciplinary approach is essential for the handling of the diverse problems of these patients [ 12 ]. Our patient is on a frequent follow up schedule in our hospital clinics.…”

Section: Discussionmentioning

confidence: 99%

Possible autosomal recessive inheritance in a neonate with Nager syndrome: Case report

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2021

Annals of Medicine and Surgery

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Introduction and importance Nager syndrome is a rare inherited disorder characterized by craniofacial malformations occurring in association with abnormalities of the thumb and radial parts of the forearm. Case presentation We presented a 18-day-old boy with Nager syndrome. The diagnosis based on his clinical presentation. He was born to non-consanguineous healthy parents. He had three deceased siblings who had similar clinical features. This family gave further evidence for autosomal recessive inheritance. Nager syndrome can be detected using prenatal screening ultrasound. Clinical discussion The etiology of Nager Syndrome is poorly described. Most cases arise spontaneously, although autosomal recessive and autosomal dominant modes of inheritance have been reported. Nager syndrome is suspected to have an autosomal recessive inheritance pattern, when unaffected parents have more than one affected child. Conclusion Treatment required the coordinated efforts of a team of specialists. Many manifestations of the disease can be improved by surgery and other supportive treatments.

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Section: Discussionmentioning

confidence: 99%