Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation

被引：17

作者：

Zankl, Andreas ^{[1
,6
]}

Elakis, George ^{[2
]}

Susman, Rachel D. ^{[3
]}

Inglis, Garry ^{[3
]}

Gardener, Glenn ^{[4
]}

Buckley, Michael F. ^{[2
]}

Roscioli, Tony ^{[2
,5
]}

机构：

[1] Univ Queensland, Royal Childrens Hosp, Genet Hlth Queensland, Herston, Qld 4029, Australia

[2] Prince Wales Hosp, SEALS Mol & Cytogenet Lab, Sydney, NSW, Australia

[3] Univ Queensland, Royal Brisbane Womens Hosp, Dept Neonatol, Brisbane, Qld, Australia

[4] Univ Queensland, Royal Brisbane Womens Hosp, Maternal Fetal Med Unit, Brisbane, Qld, Australia

[5] Univ Sydney, Royal Prince Alfred Hosp, Sydney SW Integrated Genet Serv, Camperdown, NSW, Australia

[6] Univ Queensland, Fac Hlth Sci, Brisbane, Qld, Australia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 02期

关键词：

lethal; dwarfism; SADDAN; fibroblast growth factor receptor; thanatophoric dysplasia; prenatal diagnosis;

D O I：

10.1002/ajmg.a.32085

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Mutation analysis confirmed the clinical diagnosis by detecting the FGFR3 Lys650Met mutation. This case, one of only six with molecular analysis reported in the literature, confirms the severe morbidity and adds to the reports with early mortality associated with SADDAN. Clinical-radiological characteristics of all reported cases of SADDAN are reviewed and discussed. (c) 2007 Wiley-Liss, Inc.

引用

页码：212 / 218

页数：7

共 22 条

[1] Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3
Bellus, GA
Bamshad, MJ
Przylepa, KA
Dorst, J
Lee, RR
Hurko, O
Jabs, EW
Curry, CJR
Wilcox, WR
Lachman, RS
Rimoin, DL
Francomano, CA
AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 85 (01): : 53 - 65
[2] Analysis of acanthosis nigricans due to a fibroblast growth factor receptor 3 (FGFR3) Lys-650-Met mutation.
Bellus, GA
Whalen, E
Norris, DA
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 110 (04) : 615 - 615
[3] A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
Tavormina, PL
Bellus, GA
Webster, MK
Bamshad, MJ
Fraley, AE
McIntosh, I
Szabo, J
Jiang, W
Jabs, EW
Wilcox, WR
Wasmuth, JJ
Donoghue, DJ
Thompson, LM
Francomano, CA
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (03) : 722 - 731
[4] Familial acanthosis nigricans due to K650T FGFR3 mutation
Berk, David R.
Spector, Elaine B.
Bayliss, Susan J.
ARCHIVES OF DERMATOLOGY, 2007, 143 (09) : 1153 - 1156
[5] FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met
Farmakis, Shannon G.
Shinawi, Marwan
Miller-Thomas, Michelle
Radmanesh, Alireza
Herman, Thomas E.
SKELETAL RADIOLOGY, 2015, 44 (03) : 441 - 445
[6] FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met
Shannon G. Farmakis
Marwan Shinawi
Michelle Miller-Thomas
Alireza Radmanesh
Thomas E. Herman
Skeletal Radiology, 2015, 44 : 441 - 445
[7] Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3
Van Esch, H
Fryns, JP
GENETIC COUNSELING, 2004, 15 (03): : 375 - 377
[8] Acanthosis nigricans in hypochondroplasy with fibroblast growth factor receptor 3 (FGFR3) mutation Lys650ln
Nowak, J.
Schuler, G.
Simon, M.
JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2009, 7 : 243 - 243
[9] Acanthosis Nigricans and Insulin Sensitivity in Patients with Achondroplasia and Hypochodroplasia due to FGFR3 Mutations
Alatzoglou, Kyriaki S.
Hindmarsh, Peter C.
Brain, Caroline
Torpiano, John
Dattani, Mehul T.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (10): : 3959 - 3963
[10] Mild osteochondrodysplasia with acanthosis nigricans in a short-statured Taiwanese family due to the p.Lys650Gln mutation in FGFR3
Lin, Wei-De
Tsai, Fuu-Jen
Wang, Chung-Hsing
PEDIATRICS AND NEONATOLOGY, 2019, 60 (06): : 686 - 688

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