Recognizable Syndromes in the Newborn Period

被引：3

作者：

Slavotinek, Anne ^{[1
]}

Ali, Marwan ^{[1
]}

机构：

[1] Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USA

来源：

CLINICS IN PERINATOLOGY | 2015年 / 42卷 / 02期

关键词：

Newborn period; Syndrome recognition; Dysmorphology; Birth defects; NEONATAL MARFAN-SYNDROME; PRADER-WILLI-SYNDROME; CONGENITAL LIPODYSTROPHY; STICKLER SYNDROME; MUTATION UPDATE; NOONAN SYNDROME; FBN1; TRISOMY-18; PHENOTYPE; DIAGNOSIS;

D O I：

10.1016/j.clp.2015.02.003

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Making the diagnosis of genetic syndromes in the neonatal period can be challenging, as limited information concerning growth and development is available. The pattern of dysmorphic features and malformations is therefore correspondingly more important in syndrome recognition. The authors provide specific examples of the differences in the presentation for selected syndromes between the newborn period and later childhood. The purpose is to describe the variation in presentation that can occur with chronologic age and to aid in the early diagnosis of these conditions.

引用

页码：263 / +

页数：19

共 62 条

[11] Clinically Important Age-Related Differences in Sleep Related Disordered Breathing in Infants and Children with Prader-Willi Syndrome [J].

Cohen, Michal ;

Hamilton, Jill ;

Narang, Indra .

PLOS ONE, 2014, 9 (06)

[12]

Echenne B, 2013, HAND CLINIC, V113, P1387, DOI 10.1016/B978-0-444-59565-2.00009-5

[13]

Elçioglu NH, 2004, GENET COUNSEL, V15, P219

[14] HEMIZYGOSITY AT THE ELASTIN LOCUS IN A DEVELOPMENTAL DISORDER, WILLIAMS-SYNDROME [J].

EWART, AK ;

MORRIS, CA ;

ATKINSON, D ;

JIN, WS ;

STERNES, K ;

SPALLONE, P ;

STOCK, AD ;

LEPPERT, M ;

KEATING, MT .

NATURE GENETICS, 1993, 5 (01) :11-16

[15] Hydrops Fetalis in a Preterm Newborn Heterozygous for the c.4A>G SHOC2 Mutation [J].

Gargano, Giancarlo ;

Guidotti, Isotta ;

Balestri, Eleonora ;

Vagnarelli, Federica ;

Rosato, Simonetta ;

Comitini, Giuseppina ;

Wischmeijer, Anita ;

La Sala, Giovanni Battista ;

Iughetti, Lorenzo ;

Cordeddu, Viviana ;

Rossi, Cesare ;

Tartaglia, Marco ;

Garavelli, Livia .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (04) :1015-1020

[16] Phenotypic Variability in Trisomy 13 Mosaicism: Two New Patients and Literature Review [J].

Griffith, Christopher B. ;

Vance, Gail H. ;

Weaver, David D. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (06) :1346-1358

[17] Prenatal Presentation and Diagnostic Evaluation of Suspected Smith-Lemli-Opitz (RSH) Syndrome [J].

Haas, Dorothea ;

Haege, Gisela ;

Hoffmann, Georg F. ;

Burgard, Peter .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (05) :1008-1011

[18] CLINICAL EXPERIENCE WITH TRISOMY-18 AND TRISOMY-13 [J].

HODES, ME ;

COLE, J ;

PALMER, CG ;

REED, T .

JOURNAL OF MEDICAL GENETICS, 1978, 15 (01) :48-60

[19] Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3′ end of FBN1 gene [J].

Jacquinet, Adeline ;

Verloes, Alain ;

Callewaert, Bert ;

Coremans, Christine ;

Coucke, Paul ;

de Paepe, Anne ;

Kornak, Uwe ;

Lebrun, Frederic ;

Lombet, Jacques ;

Pierard, Gerald E. ;

Robinson, Peter N. ;

Symoens, Sofie ;

Van Maldergem, Lionel ;

Debray, Francois-Guillaume .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (05) :230-234

[20] Mutation update on the CHD7 gene involved in CHARGE syndrome [J].

Janssen, Nicole ;

Bergman, Jorieke E. H. ;

Swertz, Morris A. ;

Tranebjaerg, Lisbeth ;

Lodahl, Marianne ;

Schoots, Jeroen ;

Hofstra, Robert M. W. ;

van Ravenswaaij-Arts, Conny M. A. ;

Hoefsloot, Lies H. .

HUMAN MUTATION, 2012, 33 (08) :1149-1160

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