Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care-Reference-Cited by-同舟云学术

Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care

Published:2021-07-09 Issue: Volume: Page:105566562110285
ISSN:1055-6656
Container-title:The Cleft Palate-Craniofacial Journal
language:en
Short-container-title:The Cleft Palate-Craniofacial Journal

Author:

Chaisrisawadisuk Sarut¹²^ORCID,Moore Mark H¹

Affiliation:

1. Cleft and Craniofacial South Australia, Women’s and Children’s Hospital, North Adelaide, South Australia, Australia

2. Division of Plastic Surgery, Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

Abstract

Pfeiffer syndrome is one of the autosomal dominant craniofacial syndromes. Classical clinical manifestations are coronal suture synostosis causing brachycephaly, midface retrusion, airway compromise, broad thumbs, and toes. Pfeiffer syndrome type I (classic type) is associated with FGFR1 mutation. However, wide range of clinical manifestations, with and without craniosynostosis, have been reported. Here, we present a family of Pfeiffer syndrome across 3 generations with identical FGFR1: c.755C>G (p.Pro252Arg) mutation. Where the members of the youngest generation have no cranial involvement. Lastly, we propose a guideline management for familial Pfeiffer syndrome management.

Publisher

SAGE Publications

Subject

Otorhinolaryngology,Oral Surgery

Link

http://journals.sagepub.com/doi/pdf/10.1177/10556656211028505

Reference18 articles.

1. The Elbow in Syndromic Craniosynostosis

2. Cervical Spine in Pfeifferʼs Syndrome

3. The Feet in Pfeifferʼs Syndrome

4. Pitfalls of genetic counselling in Pfeiffer's syndrome.

5. Prenatal diagnosis of type 2 Pfeiffer syndrome