Prenatal Diagnosis of Acromelic Frontonasal Dysostosis

Author:

Martínez-Payo CristinaORCID,García-Santiago Fe Amalia,Heath Karen E.,Gavin Eduardo,Mansilla-Aparicio Elena

Abstract

Acromelic frontonasal dysostosis (AFND; MIM #603671) is a rare autosomal dominant genetic disorder caused by a heterozygous mutation in the <i>ZSWIM6</i> (<i>KIAA1577</i>) gene located at chromosome 5q12.1. It is phenotypically characterized by frontonasal malformation with hypertelorism, telecanthus, nasal clefting or bifid nasal tip, wide fontanels and sutures, brachycephaly, and cleft palate. The patients also present with central nervous system malformations such as encephalocele, agenesis of the corpus callosum, or interhemispheric lipoma. Limb malformations can also be found, including preaxial polydactyly of the feet and sometimes postaxial polydactyly of the hands, talipes equinovarus, or tibia malformations. Here, we present a case of early prenatal diagnosis of AFND with ultrasound and necropsy images which show the phenotypic findings of this syndrome.

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Reference4 articles.

1. Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, et al. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. Am J Hum Genet. 2017;101(6):995–1005.

2. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.

3. Sedano HO, Cohen MM Jr, Jirasek J, Gorlin RJ. Frontonasal dysplasia. J Pediatr. 1970;76(6):906–13.

4. Twigg SR, Ousager LB, Miller KA, Zhou Y, Elalaoui SC, Sefiani A, et al. Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. Clin Genet. 2016;90(3):270–5.

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