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

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. Published 2008 Wiley‐Liss, Inc.

[1]  L. Melton,et al.  A population-based study of craniosynostosis. , 1990, Journal of clinical epidemiology.

[2]  M. H. Davis,et al.  The quality of the new birth certificate data: a validation study in North Carolina. , 1993, American journal of public health.

[3]  A. Hunter,et al.  Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. , 1977, Teratology.

[4]  K. Källén.  Maternal smoking and craniosynostosis. , 1999, Teratology.

[5]  T. Beaty,et al.  Genetic and Environmental Risk Factors for Sagittal Craniosynostosis , 2002, The Journal of craniofacial surgery.

[6]  E. Hade,et al.  Validation of birth certificate data. A study of women in New Jersey's HealthStart program. , 2001, Annals of epidemiology.

[7]  A. Hunter,et al.  Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s). , 1976, Teratology.

[8]  S. Clarren,et al.  The Differential Diagnosis of Posterior Plagiocephaly: True Lambdoid Synostosis versus Positional Molding , 1996, Plastic and reconstructive surgery.

[9]  E. Haan,et al.  A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. , 1997, American journal of human genetics.

[10]  J. Goldblatt,et al.  Craniosynostosis in Western Australia, 1980-1994: a population-based study. , 1999, American journal of medical genetics.

[11]  E. Mitchel,et al.  Validation of 1989 Tennessee birth certificates using maternal and newborn hospital records. , 1993, American journal of epidemiology.

[12]  S. W. Ferguson,et al.  An epidemiologic study of craniosynostosis: risk indicators for the occurrence of craniosynostosis in Colorado. , 1988, American journal of epidemiology.

[13]  J. McCarthy,et al.  Syndromes involving craniosynostosis and midface hypoplasia. , 2000, Otolaryngologic clinics of North America.

[14]  J. Reefhuis,et al.  Maternal age and non-chromosomal birth defects, Atlanta--1968-2000: teenager or thirty-something, who is at risk? , 2004, Birth defects research. Part A, Clinical and molecular teratology.

[15]  S. Rasmussen,et al.  Guidelines for case classification for the National Birth Defects Prevention Study. , 2003, Birth defects research. Part A, Clinical and molecular teratology.

[16]  B. Källén,et al.  Maternal Drug Use, Fertility Problems, and Infant Craniostenosis , 2005, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

[17]  A. Baron,et al.  Increased risk of craniosynostosis with higher antenatal maternal altitude. , 1995, International journal of epidemiology.

[18]  M. Cohen.  Editorial: Perspectives on craniosynostosis , 2005, American journal of medical genetics. Part A.

[19]  G. Shaw,et al.  Fertility treatments and craniosynostosis: California, Georgia, and Iowa, 1993-1997. , 2003, Pediatrics.

[20]  A. Baron,et al.  Increased risk of craniosynostosis with maternal cigarette smoking during pregnancy. , 1994, Teratology.

[21]  K. Aleck.  Craniosynostosis syndromes in the genomic era. , 2004, Seminars in pediatric neurology.

[22]  G. Shaw,et al.  Craniosynostosis and maternal smoking. , 2008, Birth defects research. Part A, Clinical and molecular teratology.

[23]  J. Hurst,et al.  Clinical dividends from the molecular genetic diagnosis of craniosynostosis , 2006, American Journal of Medical Genetics. Part A.

[24]  A. Wilkie.  Epidemiology and genetics of craniosynostosis. , 2000, American journal of medical genetics.

[25]  M. Cohen.  Selected clinical research involving the central nervous system. , 1990, Journal of craniofacial genetics and developmental biology.

[26]  A. Hockley,et al.  Craniosynostosis , 1993, The Lancet.

[27]  Gary M Shaw,et al.  Prepregnancy obesity as a risk factor for structural birth defects. , 2007, Archives of pediatrics & adolescent medicine.

[28]  M. Honein,et al.  Further evidence for an association between maternal smoking and craniosynostosis. , 2000, Teratology.

[29]  L D Edmonds,et al.  The National Birth Defects Prevention Study , 2001, Public health reports.

[30]  J. Reif,et al.  PARENTAL OCCUPATIONS AS RISK FACTORS FOR CRANIOSYNOSTOSIS IN OFFSPRING , 1995, Epidemiology.

[31]  D. Rénier,et al.  Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. , 1998, American journal of medical genetics.

[32]  T. Hulsey,et al.  Discordance between LMP-based and clinically estimated gestational age: implications for research, programs, and policy. , 1995, Public health reports.

[33]  C. Bonaïti‐pellié,et al.  Genetic study of nonsyndromic coronal craniosynostosis. , 1995, American journal of medical genetics.

[34]  S. Fernbach,et al.  Maternal exposure to prescription and non-prescription pharmaceuticals or drugs of abuse and risk of craniosynostosis. , 1998, International journal of epidemiology.

[35]  Csaba Siffel,et al.  The Metropolitan Atlanta Congenital Defects Program: 35 years of birth defects surveillance at the Centers for Disease Control and Prevention. , 2003, Birth defects research. Part A, Clinical and molecular teratology.

[36]  A. Wilcox,et al.  Errors in gestational age: evidence of bleeding early in pregnancy. , 1999, American journal of public health.

[37]  S. R. Cohen,et al.  The differential diagnosis of abnormal head shapes: separating craniosynostosis from positional deformities and normal variants. , 1998, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

[38]  C. Bonaïti‐pellié,et al.  Genetic study of scaphocephaly. , 1996, American journal of medical genetics.