Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

被引：19

作者：

Toriello, Helga V. ^{[1
,2
]}

Erick, Miriam ^{[3
]}

Alessandri, Jean-Luc ^{[4
]}

Bailey, Diana ^{[5
]}

Brunetti-Pierri, Nicola ^{[5
,6
,7
]}

Cox, Helen ^{[8
]}

Fryer, Alan ^{[9
]}

Marty, Denise ^{[10
]}

McCurdy, Charles ^{[5
]}

Mulliken, John B. ^{[11
]}

Murphy, Helen ^{[12
]}

Omlor, Joseph ^{[13
]}

Pauli, Richard M. ^{[14
]}

Ranells, Judith D. ^{[15
]}

Sanchez-Valle, Amarillis ^{[15
]}

Tobiasz, Ana ^{[1
]}

Van Maldergem, Lionel ^{[16
]}

Lin, Angela E. ^{[17
]}

机构：

[1] Spectrum Hlth, Genet Serv, Grand Rapids, MI USA

[2] Michigan State Univ, Dept Pediat Human Dev, Coll Human Med, Grand Rapids, MI USA

[3] Brigham & Womens Hosp, Ctr Women & Newborns, Boston, MA 02115 USA

[4] CHU Reunion, Serv Reanimat Neonatale None, Naples, Italy

[5] Univ Naples Federico II, Dept Pediat, Naples, Italy

[6] Telethon Inst Genet & Med, Naples, Italy

[7] Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham, W Midlands, England

[8] Royal Liverpool Childrens Hosp Alder Hey, Liverpool, Merseyside, England

[9] Unity Hosp, Virginia Piper Canc Inst, Fridley, MN USA

[10] Hlth Pk Med Ctr, Ft Myers, FL USA

[11] Childrens Hosp, Dept Plast Surg, Boston, MA 02115 USA

[12] Cent Manchester Univ Hosp, Manchester, Lancs, England

[13] Michigan State Univ, Coll Human Med, Grand Rapids, MI USA

[14] Genet Ctr, Madison, WI USA

[15] Univ S Florida, Coll Med, Dept Pediat, Tampa, FL 33612 USA

[16] Ctr Genet Humaine, Inst Pathol & Genet, Loverval, Belgium

[17] Mass Gen Hosp Children, Genet Unit, Boston, MA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161A卷 / 03期

关键词：

Binder phenotype; chondrodysplasia punctata; maxillonasal dysplasia; vitamin K deficiency; warfarin embryopathy phenocopy; BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA; MORPHOLOGY STANDARD TERMINOLOGY; FETAL INTRACRANIAL HEMORRHAGE; SYSTEMIC-LUPUS-ERYTHEMATOSUS; FAT-SOLUBLE VITAMINS; WARFARIN EMBRYOPATHY; CHRONIC-PANCREATITIS; METABOLISM; PREVALENCE; MUTATIONS;

D O I：

10.1002/ajmg.a.35765

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Chondrodysplasia punctata (CDP) is an etiologically heterogeneous disorder characterized by the radiographic finding of stippled epiphyses (punctate calcifications). It is often accompanied by a characteristic facial appearance, known as the Binder phenotype, which is attributed to hypoplasia of the nasal cartilages; abnormal distal phalanges (brachytelephalangy) are a common component manifestation as well. We report eight patients with a Binder phenotype with or without CDP who all shared a known or suspected maternal deficiency of vitamin K. We suspect that this phenotype is probably under recognized, and we hope to increase awareness about the maternal risk factors, especially hyperemesis gravidarum, which lead to nutritional deficiency. (c) 2013 Wiley Periodicals, Inc.

引用

页码：417 / 429

页数：13

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