Apert Syndrome: Molecularly Confirmed C.758C>G (P.Pro253Arg) in FGFR2
Abstract
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:
- 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
- Journal Name:
- International Journal of Clinical and Medical Imaging
- Additional Journal Information:
- 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); Journal ID: ISSN 2376-0249
- 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
Citation Formats
Cha Gon, Lee, E-mail: leechagon@eulji.ac.kr. Apert Syndrome: Molecularly Confirmed C.758C>G (P.Pro253Arg) in FGFR2. United States: N. p., 2016.
Web. doi:10.4172/2376-0249.1000435.
Cha Gon, Lee, E-mail: leechagon@eulji.ac.kr. Apert Syndrome: Molecularly Confirmed C.758C>G (P.Pro253Arg) in FGFR2. United States. https://doi.org/10.4172/2376-0249.1000435
Cha Gon, Lee, E-mail: leechagon@eulji.ac.kr. 2016.
"Apert Syndrome: Molecularly Confirmed C.758C>G (P.Pro253Arg) in FGFR2". United States. https://doi.org/10.4172/2376-0249.1000435.
@article{osti_22504539,
title = {Apert Syndrome: Molecularly Confirmed C.758C>G (P.Pro253Arg) in FGFR2},
author = {Cha Gon, Lee, E-mail: leechagon@eulji.ac.kr},
abstractNote = {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-)},
doi = {10.4172/2376-0249.1000435},
url = {https://www.osti.gov/biblio/22504539},
journal = {International Journal of Clinical and Medical Imaging},
issn = {2376-0249},
number = 3,
volume = 3,
place = {United States},
year = {Mon Mar 21 00:00:00 EDT 2016},
month = {Mon Mar 21 00:00:00 EDT 2016}
}