Craniosynostoses
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Craniosynostoses

M. Muenke, W. Kress, H. Collmann, B. D. Solomon

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eBook - ePub

Craniosynostoses

M. Muenke, W. Kress, H. Collmann, B. D. Solomon

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Craniosynostosis - the premature fusion of the cranial sutures of an infant's skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in specialized hospitals and clinical units.This book represents a comprehensive overview on the subject of craniosynostosis. Its 19 excellent chapters were written by the foremost authorities in the field for a wide range of readers. They cover topics including a historical review, basic biological and molecular studies, the various common and uncommon syndromes, nonsyndromic craniosynostoses, genetic testing, prenatal ultrasonography, and recent methods of neurosurgical and maxillofacial treatment. Both investigators at the bench and clinicians at the operating table will appreciate this timely book which will be the definitive volume on craniosynostosis for many years to come.

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Informations

Éditeur
S. Karger
Année
2011
ISBN
9783805595957
Sous-sujet
Neurosurgery
Chapter 11
Muenke M, Kress W, Collmann H, Solomon BD (eds): Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and Treatment.
Monogr Hum Genet. Basel, Karger, 2011, vol 19, pp 119-142
______________________

Uncommon Craniosynostosis Syndromes: A Review of Thirteen Conditions

M.S. Raama,b · M. Muenkea
aMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md., bHHMI-NIH Research Scholars Program, Howard Hughes Medical Institute, Chevy Chase, Md., USA
______________________

Abstract

Uncommon craniosynostosis syndromes, while individually less well characterized than more common conditions such as Apert, Crouzon, Pfeiffer, Muenke, and Saethre-Chotzen syndromes, comprise a significant proportion of craniosynostosis cases when considered in sum. Thirteen of these rare syndromes are covered here with respect to nosology, associated clinical characteristics, and molecular genetics. They were selected for discussion in this chapter due to recent molecular advances therein that can significantly enhance clinicians’ ability to diagnose and counsel patients with these syndromes. The syndromes discussed here include Antley-Bixler syndrome, Baller-Gerold syndrome, Beare-Stevenson cutis gyrata syndrome, Bohring-Opitz syndrome, C (Opitz trigonocephaly) syndrome, Carpenter syndrome, Crouzon syndrome with acanthosis nigricans, Jackson-Weiss syndrome, Jacobsen syndrome, Loeys-Dietz syndrome type I, osteoglophonic dysplasia, P450 oxidoreductase deficiency, and Shprintzen-Goldberg syndrome.
Copyright © 2011 S. Karger AG, Basel
Syndromic craniosynostosis comprises approximately 15% of craniosynostosis cases, with well over 180 syndromes identified to date [1]. Although much attention is given to several well-characterized craniosynostosis syndromes, including Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, Muenke syndrome, and Saethre-Chotzen syndrome (see individual chapters on each in this volume), the vast majority of craniosynostosis syndromes are less well characterized and/or individually involve a comparatively small number of patients (see partial list in table 1). Despite these aspects of uncommon craniosynostosis syndromes, they comprise a significant proportion of craniosynostosis cases when considered in aggregate [2]. Additionally, the clinical issues observed in some uncommon syndromes differ from those encountered in the major syndromes: mental retardation and perinatal death, for instance, are seen more often in several uncommon syndromes, shifting focus away from simple surgical correction and creating a greater emphasis on prenatal diagnosis, psychomotor development, and genetic counseling [2]. Perhaps most importantly, description and delineation of uncommon craniosynostosis syndromes allow clinicians to better treat and counsel the significant numbers of families of patients with conditions that are not well understood.
Cohen Jr. and MacLean have provided a comprehensive discussion of the process of syndrome delineation, particularly with respect to craniosynostosis syndromes [2]. Based on whether or not a syndrome has an identifiable cause, it can be categorized as a syndrome of unknown genesis or as a syndrome of known genesis. Syndromes of unknown genesis can be further subdivided into syndromes with a provisionally unique pattern, in which a unique combination of anomalies has so far been observed in only 1 patient, and syndromes with a recurrent pattern, in which similar anomalies have been observed in 2 or more unrelated patients. Syndromes of known genesis can be further subdivided into those thought to have a monogenic cause, those with an identified chromosomal cause, those in which a specific enzymatic defect has been implicated, and those in which specific teratogens or environmental factors are causative. As of 1991, when 90 craniosynostosis syndromes had been identified, 40 syndromes were syndromes with mostly unidentified monogenic causes, 24 were syndromes of unknown genesis, 16 were syndromes with an identified chromosomal cause, and 4 were environmentally induced disorders [2].
Table 1. Partial list of uncommon craniosynostosis syndromes. Syndromes covered in this chapter are bolded and MIM numbers are provided wherever available. Although the text of this chapter covers relatively well-described syndromes for which underlying molecular bases are known, this list is provided as a starting point to demonstrate that the vast majority of the uncommon craniosynostosis syndromes are described in very few patients, do not clearly demonstrate Mendelian genetics, do not have a known underlying molecular basis, and/or are not clearly distinguishable from other syndromes. Better molecular characterization of patients and greater correlation between molecular findings and syndrome delineation can narrow this rather unwieldy list of syndromes to one that is more useful to clinicians and patients. (Adapted from Table 31-1, p. 385, Chapter 31, in [147] with permission from Oxford University Press, Inc.)
MIM number
Uncommon craniosynostosis syndromes
Acrocephalospondylosyndactyly
201050
Acrocraniofacial dysostosis
%201550
Adducted thumbs (Christian) syndrome
#207410
Antley-Bixler syndrome
Armendares syndrome
#218600
Baller-Gerold syndrome
Baraitser syndrome
#123790
Beare-Stevenson cutis gyrata syndrome
Berant syndrome
Blair/Pakistan syndrome
#605039
Bohring-Opitz syndrome
#211750
C (Opitz trigonocephaly) syndrome
CAP syndrome
COH syndrome
Calabro syndrome
302030
Calvarial hyperostosis
#201000
Carpenter syndrome
%605627
Cerebrooculonasal syndrome
Cerebrotrichofacial syndrome
601853
Cerebellotrigeminal dermal dysplasia (GĂłmez-LĂłpez-HernĂĄndez syndrome)
241519
Chitayat hypophosphatemia syndrome
112240
Cole-Carpenter syndrome
#218330, #613610
Cranioectodermal dysplasia
218350
Craniofacial dyssynostosis
Craniofaciocervical osteoglyphic dysplasia
602558
Craniomicromelic syndrome
Cranio-oculo-arthrogrypotic syndrome
123050
Craniorhiny
Craniosyndactyly/intestinal atresia syndrome
603595
Craniosynostosis with ectopia lentis
#604757
Craniosynostosis, Boston type
%601222
Craniosynostosis, Philadelphia type
#612247
Crouzon syndrome with acanthosis nigricans
218670
Craniotelencephalic dysplasia
Curry Carpenter-like syndrome
601707
Curry-Jones syndrome
%224690
Ear, patella, short stature (Meier-Gorlin) syndrome
200995
Elejalde syndrome
Fontaine-Farriaux syndrome
#190440
Frydman trigonocephaly syndrome
Fryns craniosynostosis syndrome
601370
Genoa syndrome
233500
Gorlin-Chaudhry-Moss syndrome
Hall syndrome
#235510
Hennekam lymphangiectasia-lymphedema syndrome
#133701
Hereditary multiple exostoses, type II
Herrmann syndrome
Hersh syndrome
601379
Hunter-McAlpine syndrome
%241310
Hypomandibular faciocranial syndrome
Idaho syndrome
#123150
Jackson-Weiss syndrome
#147791
Jacobsen syndrome
123155
Jones craniosynostosis/Dandy-Walker syndrome
Kozlowski craniosynostosis syndrome
Kreiborg/Pakistan syndrome
Lampert syndrome
218649
Lin-Gettig syndrome
#609192, #610168
Loeys-Dietz syndrome, type I
Lowry syndrome
600252
Lowry-MacLean syndrome
Mehta syndrome
257920
Michels syndrome
%251230
Microcephaly-micromelia (Ives-Houston) syndrome
602361
Osteocraniostenosis/gracile bone dysplasia
#166250
Osteoglophonic dysplasia
#201750
P450 oxidoreductase deficiency
Passos-Bueno craniosynostosis/cataracts syndrome
218450
Pfeiffer-type cardiocranial syndrome
Pfeiffer-type dolichocephalosyndactyly
Richieri-Costa overgrowth syndro...

Table des matiĂšres