Syndromes Involving Craniosynostosis and Midface Hypoplasia

Katzen, Janine; McCarthy, Joseph G.

doi:10.1016/s0030-6665(05)70280-2

Cited by 58 publications

(51 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although the MACDP has access to data from cytogenetics laboratories, its database may not reflect other syndromic diagnoses made in outpatient clinical settings unless the child involved is hospitalized following the diagnosis. The most frequently occurring syndrome among case infants was Apert syndrome, a finding that is supported by several previous studies indicating that the three most common craniosynostosis syndromes are Apert, Crouzon, and Saethre-Chotzen [Cohen, 2000;Katzen and McCarthy, 2000;Muenke and Wilkie, 2001;Kabbani and Raghuveer, 2004]. However, in a recent study that incorporated data on molecular genetic testing, Wilkie et al [2006] found that Muenke syndrome was the most common syndrome among infants with craniosynostosis, accounting for 8% of all craniosynostosis cases.…”

Section: Discussionsupporting

confidence: 67%

“…Synostosis of the coronal or metopic sutures is less common, and lambdoid synostosis is rare [Lajeunie et al, 1995;Aleck, 2004;Kabbani and Raghuveer, 2004;Cohen, 2005]. Craniosynostosis has been reported as a clinical feature in more than 100 genetic syndromes, the most common of which include Apert, SaethreChotzen, and Crouzon syndromes [Cohen, 2000;Katzen and McCarthy, 2000;Muenke and Wilkie, 2001;Kabbani and Raghuveer, 2004]. Although few population-based estimates of the birth prevalence of craniosynostosis are available, estimates from three of these studies range from 3.1 to 4.8 cases per 10,000 live births [French et al, 1990;Lajeunie et al, 1995;Cohen, 2000].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003

Boulet

Rasmussen

Honein

2008

American J of Med Genetics Pt A

305

253

View full text Add to dashboard Cite

Craniosynostosis is a birth defect characterized by premature fusion of one or more cranial sutures. We describe the birth prevalence of craniosynostosis and related risk factors among infants born to residents of metropolitan Atlanta during 1989-2003. Data from the Metropolitan Atlanta Congenital Defects Program (MACDP) were used to identify infants with craniosynostosis. Case records with a code for craniosynostosis were reviewed to substantiate the diagnosis of craniosynostosis and to classify infants as having isolated craniosynostosis (no other unrelated major defects), multiple defects (one or more additional major, unrelated defects), or a syndrome (recognized or strongly suspected single-gene condition or chromosome abnormality). Vital records data on births of Georgia residents were used to analyze craniosynostosis prevalence by year of birth, maternal race and age, parity, plurality, and infants' sex, birth weight, and gestational age. We identified 281 infants born with craniosynostosis in metropolitan Atlanta during 1989-2003: 84% with isolated craniosynostosis, 7% with multiple defects, and 9% with syndromes. The birth prevalence was 4.3 per 10,000 births, results consistent with findings from other population-based studies using similar case definitions. Apert syndrome was diagnosed in 40% of the syndromic cases, and sagittal synostosis was diagnosed in 39% of the cases of nonsyndromic craniosynostosis. Maternal age 35 years or older, multiple birth, male sex, and birth weight >4,000 g were risk factors for craniosynostosis.

show abstract

Section: Discussionsupporting

confidence: 67%

Section: Introductionmentioning

confidence: 99%

A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003

Boulet

Rasmussen

Honein

2008

American J of Med Genetics Pt A

305

253

View full text Add to dashboard Cite

show abstract

“…Craniosynostosis, premature fusion of one or several sutures of the skull, occurs with a frequency of approximately 1 in 2500 individuals (reviewed in Katzen and McCarthy, 2000;Renier et al, 2000). So far, over sixty mutations, with a majority in FGFR2, have been found to be associated with nine clinically distinct craniosynostosis syndromes.…”

Section: Craniosynostosismentioning

confidence: 99%

“…These include: Antley-Bixler-like syndrome (ABS), Apert syndrome (AS), Beare-Stevenson syndrome (BSS), Crouzon syndrome (CS), Crouzon and Acanthosis Nigricans syndrome (CAN), Jackson-Weiss syndrome (JWS), Muenke syndrome (MS), and Pfeiffer syndrome (PS). The detailed characterization of these diseases can be found in a number of excellent reviews (Hehr and Muenke, 1999;Passos-Bueno et al, 1999;Katzen and McCarthy, 2000;McIntosh et al, 2000). All the mutations are dominant, and all the syndromes exhibit craniofacial abnormalities with varying severity.…”

Section: Craniosynostosismentioning

confidence: 99%

Roles of FGF receptors in mammalian development and congenital diseases

Coumoul

Deng

2003

Birth Defects Research Pt C

110

View full text Add to dashboard Cite

Four fibroblast growth factor receptors (FGFR1-4) constitute a family of transmembrane tyrosine kinases that serve as high affinity receptors for at least 22 FGF ligands. Gene targeting in mice has yielded valuable insights into the functions of this important gene family in multiple biological processes. These include mesoderm induction and patterning; cell growth, migration, and differentiation; organ formation and maintenance; neuronal differentiation and survival; wound healing; and malignant transformation. Furthermore, discoveries that mutations in three of the four receptors result in more than a dozen human congenital diseases highlight the importance of these genes in skeletal development. In this review, we will discuss recent progress on the roles of FGF receptors in mammalian development and congenital diseases, with an emphasis on signal transduction pathways.

show abstract

“…Cloverleaf skull deformity can be encountered in numerous syndromes; the most frequent being homozygous achondroplasia and type 2 thanatophoric dwarfi sm (which can both be 'easily' ruled out prenatally), Apert syndrome, Crouzon syndrome, Jackson-Weiss syndrome, and Pfeiffer syndrome [16,17] .…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Cloverleaf Skull: Watch the Hands!

Gorincour¹,

Rypens²,

Grignon³

et al. 2005

Fetal Diagn Ther

View full text Add to dashboard Cite

Pfeiffer syndrome is an extremely rare autosomal-dominant condition whose prenatal diagnosis has only been reported 6 times, mainly on the basis of a fetal cloverleaf skull deformity. Three types have been described, each with a different prognosis. This case report stresses the need to thoroughly analyze the fetus and particularly the fetal hands in case of prenatal observation of a cloverleaf skull. The discovery of characteristic hand abnormalities allowed the early prenatal detection of type 2 Pfeiffer syndrome in our patient.

show abstract

Syndromes Involving Craniosynostosis and Midface Hypoplasia

Cited by 58 publications

References 41 publications

A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003

A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003

Roles of FGF receptors in mammalian development and congenital diseases

Prenatal Diagnosis of Cloverleaf Skull: Watch the Hands!

Contact Info

Product

Resources

About