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Title: Apert Syndrome: Molecularly Confirmed C.758C>G (P.Pro253Arg) in FGFR2

A 5-day-old girl was referred to our clinic for evaluation of congenital malformations. She was identified with a pathogenic mutation c.758C>G (p.Pro253Arg) in FGFR2 gene using targeted exome sequencing. The de novo mutation was confirmed with Sanger sequencing in the patient and her parents. She showed occipital plagiocephaly with frontal bossing (Figure A and B). Skull frontal and lateral radiography revealed fusion of most of the sutures except coronal suture, with convolutional markings (Figure D and E). She had complete cleft palate (Figure C). Her fused bilateral hands showed type II syndactyly with complete syndactyly between the ring and the little fingers (Figure F1-F3). Both toes were simple syndactyly with side-to-side fusion of skin (Figure G1-)
Authors:
 [1]
  1. Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji University, 68 Hangeulbiseok-ro, Nowon-gu, Seoul 139-711 (Korea, Republic of)
Publication Date:
OSTI Identifier:
22504539
Resource Type:
Journal Article
Resource Relation:
Journal Name: International Journal of Clinical and Medical Imaging; Journal Volume: 3; Journal Issue: 3; Other Information: PUBLISHER-ID: 2376-0249.1000435; Copyright: (c) 2016 Lee CG.; This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.; Country of input: International Atomic Energy Agency (IAEA)
Country of Publication:
United States
Language:
English
Subject:
62 RADIOLOGY AND NUCLEAR MEDICINE; CONGENITAL MALFORMATIONS; DIAGNOSIS; EVALUATION; FINGERS; GENE MUTATIONS; MOLECULAR BIOLOGY; SKIN; SKULL; STRUCTURAL CHEMICAL ANALYSIS