The Craniofacial Dysostosis Syndromes: Current Surgical Thinking and Future Directions

Abstract

Craniofacial dysostosis is the term applied to familial forms of craniosynostosis in which the sutural involvement generally includes the cranial vault, cranial base, and midfacial skeletal structures. The syndromic forms of craniofacial dysostosis (CFD) were initially described by Carpenter, Apert, Crouzon, Saethre and Chotzen, Pfeiffer, and others. In addition to the dysmorphic cranial features, affected individuals may have profound alterations in facial skeletal development. Surgical reconstruction requires thoughtfully sequenced and staged procedures with consideration for the individual's specific malformations, craniofacial growth patterns, and psychosocial needs.

Management of the CFD syndromes is surgical, but the indications and the timing, type, and effectiveness of each stage of reconstruction have not been well evaluated and remains as much an art as a science. This article reviews the specific characteristic clinical features of the CFD syndromes and presents current philosophy and rationale for the staging of reconstruction.

Keywords

Apert Chotzen cloverleaf skull craniofacial dysostosis craniofacial surgery Crouzon Pfeiffer Saethre surgery syndrome

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References

Anderson

F.M.

Geiger

. Craniosynostosis: a survey of 204 cases. J Neurosurg. 1990; 23: 229.

Apert

. De l'acrocephalosyndactlie. Bull Memoires Soc Medicare Hop Paris. 1906; 23: 1310.

Bennett

A.E.

Keegan

J.J.

Hunt

H.B.

. Oxycephalus: premature synostosis of the cranial sutures. Prevention of blindness by craniectomy and decompression. Two case reports. J Nerv Ment Dis. 1936; 84: 274.

Carr

Posnick

J.C.

Pron

Armstrong

. Cranio-orbito-zygomatic measurements from standard CT scans in unoperated Crouzon and Apert infants: comparison with normal controls. Cleft Palate Craniofac J. 1992; 29: 129–136.

Chin

Toth

B.A.

. Lefort III advancement with gradual distraction using internal devices. Plast Reconstr Surg. 1997; 100: 819–830.

Cohen

Jr . An etiologic and nosologic overview of craniosynostosis syndromes. Birth Defects Orig Artic Ser. 1975; 11: 137–189.

Cohen

Jr . Cloverleaf syndrome update. Proc Greenwood Gene Center. 1987; 6: 186–187.

Cohen

Jr , ed. Craniosynostosis: Diagnosis, Evaluation, and Management. New York: Raven Press; 1986.

Cohen

Jr , Craniosynostoses: phenotypic/molecular correlations. Am J Med Genet. 1995; 56: 344–349.

10.

Cohen

Jr , Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet. 1993a; 45: 300–307.

11.

Cohen

Jr , Sutural biology and the correlates of craniosynostosis. Am J Med Genet. 1993b; 47: 581–616.

12.

Cohen

Jr , The cloverleaf anomaly: Managing extreme cranio-orbito-faciostenosis. [Discussion.] Plast Reconstr Surg. 1993c; 91: 10–14.

13.

Cohen

Jr , Transforming growth factor ßs and fibroblast growth factors and their receptors: role in sutural biology and craniosynostosis. J Bone Miner Res. 1997; 12: 322–331.

14.

Cohen

Jr Kreiborg

. Skeletal abnormalities in the Apert syndrome. Am J Med Genet. 1993a; 47: 624–632.

15.

Cohen

Jr Kreiborg

. The central nervous system in the Apert syndrome. Am J Med Genet. 1990; 35: 36–45.

16.

Cohen

Jr Kreiborg

. The growth pattern in the Apert syndrome. Clin Genet. 1993b; 47: 617–623.

17.

Cohen

S.R.

. Midface distraction. Semin Orthod. 1999; 5: 52–58.

18.

Cohen

S.R.

Boydston

Burstein

F.D.

Hudgins

. Monobloc distraction osteogenesis during infancy: report of a case and presentation of a new device. Plast Reconstr Surg. 1998; 101: 1919–1924.

19.

Cohen

S.R.

Kawamoto

Jr Burstein

Peacock

W.J.

. Advancement-onlay: an improved technique of fronto-orbital remodeling in craniosynostosis. Childs Nerv Syst. 1991; 7: 264–271.

20.

Crouzon

. Dysostoses cranio-faciale herediataire. Bulletins et Memoires Societe Medicale des Hopitaux de Paris. 1912; 33: 545.[20]

21.

David

D.J.

Sheen

. Surgical correction of Crouzon syndrome. Plast Reconstr Surg. 1990; 85: 344–354.

22.

Delashaw

J.B.

Persing

T.A.

Broaddus

W.C.

Jane

J.A.

. Cranial vault growth in craniosynostosis. J Neurosurg. 1989; 70: 159–165.

23.

Drake

D.B.

Persing

J.A.

Berman

D.E.

Ogle

R.C.

. Calvarial deformity regeneration following subtotal craniectomy for craniosynostosis: a case report and theoretical implications. J Craniofac Surg. 1993; 4: 85–89.

24.

Drake

A.F.

Sidman

J.D.

. Airway management. In: Turvey

T.A.

Vig

K.W.L.

Fonseca

R.J.

, eds. Facial Clefts and Craniosynostosis: Principles and Management. Philadelphia: WB Saunders; 1996: 174–182.

25.

El Ghouzzi

Le Merrer

Perrin-Schmitt

La Jeunie

Benit

Renier

Bourgeois

Bolcato-Bellemin

A.L.

Munnich

Bonaventure

. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet. 1997; 15: 42–46.

26.

Enlow

D.H.

McNamara

Jr . The neurocranial basis for facial form and pattern. Angle Orthod. 1973; 43: 256–270.

27.

Farkas

L.G.

Posnick

J.C.

. Growth and development of regional units in the head and face based on anthropometric measurements. Cleft Palate Craniofac J. 1992; 29: 301–302.

28.

Farkas

L.G.

Posnick

J.C.

Hreczko

. Anthropometric growth study of the head. Cleft Palate Craniofac J. 1992a; 29: 303–307.

29.

Farkas

L.G.

Posnick

J.C.

Hreczko

. Growth patterns in the orbital region: a morphometric study. Cleft Palate Craniofac J. 1992b; 29: 315–317.

30.

Farkas

L.G.

Posnick

J.C.

Hreczko

. Growth patterns of the face: a morphometric study. Cleft Palate Craniofac J. 1992c; 29: 308–314.

31.

Fehlow

. Craniosynostosis as a risk factor. Childs Nerv Syst. 1993; 9: 325–327.

32.

Fowler

F.D.

Ingraham

F.D.

. A new method for applying polyethylene film to the skull in the treatment of craniosynostosis. J Neurosurg. 1957; 14: 584.

33.

Freide

Lilja

Andersson

Johanson

. Growth of the anterior cranial base after craniotomy in infants with premature synostosis of the coronal suture. Scand J Plast Reconstr Surg 1983; 17: 99–108.

34.

Friede

Lilja

Lauritzen

Andersson

Johanson

. Skull morphology after early craniotomy in patients with premature synostosis of the coronal suture. Cleft Palate J. 1986; 23(suppl): 1–8.

35.

Galvin

B.D.

Hart

K.C.

Meyer

A.N.

Webster

M.K.

Donoghue

D.J.

. Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR) 2 and FGFR2/Nneu chimeras. Proc Natl Acad Sci U S A. 1996; 93: 78–94.

36.

Gillies

Harrison

S.H.

. Operative correction by osteotomy of recessed malar maxillary complex in case of oxycephaly. Br J Plast Surg. 1950; 3; 123.

37.

Gorlin

R.J.

Cohen

Jr Levin

L.S.

. Syndromes of the head and neck. 3rd ed. New York: Oxford University Press; 1990.

38.

Gorry

M.C.

Preston

R.A.

White

G.J.

Zhang

Singhal

V.K.

Losken

H.W.

Parker

M.G.

Nwokoro

N.A.

Post

J.C.

Ehrlich

G.D.

. Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. Hum Mol Genet. 1995; 4: 1387–1390.

39.

Guilleminault

. Obstructive sleep apnea syndrome and its treatment in children: areas of agreement and controversy. Pediatr Pulmonol. 1987; 3: 429–436.

40.

Hanson

J.W.

Sayers

M.P.

Knopp

L.M.

MacDonald

Smith

D.W.

. Subtotal neonatal calvariectomy for severe craniosynostosis. J Pediatr. 1977; 91: 257–260.

41.

Heeckt

Muhlbauer

Anderl

Schmidt

Hopner

. Early radical treatment of pancraniofacial synostosis. Ann Plast Surg. 1993; 30: 3l2–319.

42.

Heeckt

Muhlbauer

Fairley

Anderl

Hopner

. Pancraniofacial synostosis—indications for early craniofacial operation. Handchir Mikrochir Plast Chir. 1994; 26: 60–67.

43.

Hoffman

H.J.

Mohr

. Lateral canthal advancement of the supraorbital margin: a new corrective technique in the treatment of coronal synostosis. J Neurosurg. 1976; 45: 376–381.

44.

Hogeman

K.E.

Willmar

. On Le Fort III osteotomy for Crouzon disease in children: report of a four year follow-up in one patient. Scand J Plast Reconstr Surg. 1974; 8: 169–172.

45.

Ingraham

F.D.

Alexander

Jr Matson

D.D.

. Clinical studies in craniosynostosis: analysis of fifty cases and description of a method of surgical treatment. Surgery. 1948; 24: 518.

46.

Jabs

E.W.

Scott

A.F.

Meyer

Chen

Eccles

Mao

J.L.

Charnas

L.R.

Jackson

C.E.

Jaye

. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994; 8: 275–279.

47.

Jabs

E.W.

Müller

Luo

Haworth

I.S.

Klisak

Sparkes

Warman

M.L.

Mulliken

J.B.

. Mutation in homeodomain of human MSX2 gene in family affected with autosomal dominant craniosynostosis. Cell. 1993; 75: 443–450.

48.

Kaban

L.B.

Conover

Mulliken

. Midface position after LeFort III advancement: A long-term follow-up study. Cleft Palate J. 1986; 23(suppl): 75–77.

49.

Kaiser

. The clinical significance of bilateral synostosis of the lambdoid suture and the usefulness of its treatment. Childs Brain. 1984; 11: 87–98.

50.

Kaiser

Bittel

. Results of extended craniectomy including supraorbital advancement in premature coronal and frontal craniosynostosis. Eur J Pediatr Surg. 1991; 1: 227–229.

51.

Keener

E.B.

. Experimental observations on the use of rubber in the treatment of craniosynostosis. J Neurosurg. 1972; 36: 604.

52.

Kolar

J.C.

Munro

I.R.

Farkas

L.G.

. Patterns of dysmorphology in Crouzon syndrome: an anthropometric study. Cleft Palate J. 1988; 25: 235–244.

53.

Kreiborg

. Apert and Crouzon syndromes contrasted. Qualitative craniofacial x-ray findings. J Dent Res. 1985; 64(special issue): 203.

54.

Kreiborg

. Crouzon syndrome. A clinical and roentgencephalometric study. [Thesis (Disputats)] Scand J Plast Reconstr Surg. 1981; 18(suppl): 198.

55.

Kreiborg

. Description of a dry skull with Crouzon syndrome. Scand J Plast Reconstr Surg. 1982; 16: 245–253.

56.

Kreiborg

. Upper and lower airway compromise in the Apert syndrome. Am J Med Genet. 1992; 44: 90–93.

57.

Kreiborg

Aduss

. Pre and post surgical facial growth in patients with Crouzon and Apert syndromes. Cleft Palate J. 1986; 23(suppl): 78–90.

58.

Kreiborg

Cohen

Jr , The infant Apert skull. Neurosurg Clin North Am. 1991; 2: 551–554.

59.

Kreiborg

Jensen

B.L.

. Variable expressivity of Crouzon syndrome within a family. Scand J Dent Res. 1977; 85: 175–184.

60.

Kreiborg

Marsh

J.L.

Cohen

Jr Liversage

Pedersen

Skovby

Borgesen

S.E.

Vannier

M.W.

. Comparative three-dimensional analysis of CT scans of the calvaria and cranial base in Apert and Crouzon syndromes. J Craniomaxillofac Surg. 1993; 21: 181–188.

61.

Kreiborg

Pruzansky

. Roentgencephalometric and metallic implant studies in Apert syndrome. Presented at the 50th General Session I.A.D.R.; 1972; Las Vegas. Abstract298: 120[21].

62.

Kreiborg

Prydsoe

Dahl

Fogh-Anderson . Calvarium and cranial base in Apert syndrome: an autopsy report. Cleft Palate J. 1976; 13: 296–303.

63.

Lajeunie

H.W.

Bonaventure

Munnich

Le Merrer

Renier

. FGFR2 mutations in Pfeiffer syndrome. Nat Genet. 1995; 9: 108.

64.

Lane

L.C.

. Pioneer craniectomy for relief of mental imbecility due to premature sutural closure and microcephalus. JAMA. 1892; 18–49.

65.

Lannelongue

. De la craniectomie dans la microcephalie. Compte-Rendu Acad Sci. 1890; 110: 1382.

66.

Lauritzen

Lilja

Jarlstedt

. Airway obstruction and sleep apnea in children with craniofacial anomalies. Plast Reconstr Surg. 1986; 77: 1–6.

67.

Longaker

Posnick

J.C.

. Craniofacial reconstruction through osteotomies and gradual distraction of the skeletal parts: biologic basis, current problems and future directions. In: Posnick

J.C.

, ed. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000: 115–123.

68.

Luhr

H.G.

. Zur stabilen osteosynthese bei Unterkieferfrakkturen. Deutsch Zahnaerztl Z. 1968; 23: 754.

69.

Marchac

. Radical forehead remodeling for craniosynostosis. Plast Reconstr Surg. 1978; 62: 335–338.

70.

Marchac

Renier

Jones

B.M.

. Experience with the “floating forehead.” Br J Plast Surg. 1988; 41: 1–15.

71.

Marsh

J.L.

Gado

. Surgical anatomy of the craniofacial dysostoses: insights from CT scans. Cleft Palate J. 1982; 19: 212–221.

72.

Marsh

J.L.

Galic

Vannier

M.W.

. Surgical correction of the craniofacial dysmorphology of Apert syndrome. Clin Plast Surg. 1991a; 18: 251–276.

73.

Marsh

J.L.

Galic

Vannier

M.W.

. The craniofacial anatomy of Apert syndrome. Clin Plast Surg. 1991b; 18: 237–250.

74.

Marsh

J.L.

Vannier

M.W.

. The “third” dimension in craniofacial surgery. Plast Reconstr Surg. 1983; 71: 759–767.

75.

McCarthy

J.G.

Coccaro

P.J.

Epstein

Converse

J.M.

. Early skeletal release in the infant with craniofacial dysostosis: the role of the sphenozygomatic suture. Plast Reconstr Surg. 1978; 62: 335–346.

76.

McCarthy

J.G.

Cutting

C.B.

. The timing of surgical intervention in craniofacial anomalies. Clin Plast Surg. 1981; 17: 161–182.

77.

McCarthy

J.G.

Epstein

F.J.

Sadove

Grayson

B.H.

Zide

B.M.

. Early surgery for craniofacial synostosis: a 9-year experience. Plast Reconstr Surg. 1984a; 73: 521–529.

78.

McCarthy

J.G.

Glasberg

S.B.

Cutting

C.B.

Epstein

F.J.

Grayson

B.H.

Ruff

Thorne

C.H.

Wisoff

Zide

B.M.

. Twenty-year experience with early surgery for craniosynostosis: II. The craniofacial synostosis syndromes and pansynostosis: results and unsolved problems. Plast Reconstr Surg. 1995; 96: 284–295.

79.

McCarthy

J.G.

Grayson

Bookstein

Vickery

Zide

B.M.

. Le Fort III advancement osteotomy in the growing child. Plast Reconstr Surg. 1984b; 74: 343–354.

80.

McCarthy

J.G.

Karp

N.S.

La Trenta

G.S.

Thorne

C.H.

. The effect of early frontoorbital advancement on frontal sinus development and forehead aesthetics. Plast Reconstr Surg. 1990a; 86: 1078–1084.

81.

McCarthy

J.G.

La Trenta

G.S.

Breitbart

A.S.

Grayson

B.H.

Bookstein

F.L.

. The Le Fort III advancement osteotomy in the child under 7 years of age. Plast Reconstr Surg. 1990b; 86: 633–646.

82.

Meyers

G.A.

Orlow

S.J.

Munro

I.R.

Przylepa

K.A.

Jabs

E.W.

. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet. 1995; 11: 462–464.

83.

Mohr

Hoffman

H.J.

Munro

I.R.

Hendrick

E.B.

Humphreys

R.P.

. Surgical management of unilateral and bilateral coronal craniosynostosis: 21 years of experience. Neurosurgery. 1978; 2: 83–92.

84.

Moloney

D.M.

Slaney

S.F.

Oldridge

Wall

S.A.

Sahlin

Stenman

Wilkie

A.O.

. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996; 13: 48–53.

85.

Moloney

D.M.

Wall

S.A.

Ashworth

G.J.

Oldridge

Glass

I.A.

Fraucomano

C.A.

Muenke

Wilkie

A.O.

. Prevalence of Pro250Arg mutation in fibroblast growth facto receptor 3 in coronal craniosynostosis. Lancet. 1997; 349: 1059–1062.

86.

Moore

M.H.

. Upper airway obstruction in the syndromal craniosynostoses. Br J Plast Surg. 1993; 46: 355–362.

87.

Moore

M.H.

Cantrell

S.B.

Trott

J.A.

David

D.J.

. Pfeiffer syndromes: a clinical review. Cleft Palate Craniofac J. 1995; 32: 62–70.

88.

Muenke

Gripp

K.W.

McDonald-McGinn

D.M.

Gaudenz

Whitaker

L.A.

Bartlett

S.P.

Markowitz

R.I.

Robin

N.H.

Nwokoro

Mulvihill

J.J.

Losken

H.W.

Mulliken

J.B.

Guttmacher

A.E.

Wilroy

R.S.

Clarke

L.A.

Hollway

Ades

L.C.

Haan

E.A.

Mulley

J.C.

Cohen

Jr Bellus

G.A.

Fraucomano

C.A.

Moloney

D.M.

Wall

S.A.

Wilkie

A.O.

. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet. 1997; 60: 555–564.

89.

Muenke

Schell

Hehr

Robin

N.H.

Losken

H.W.

Schinzel

Pulleyn

L.J.

Rutland

Reardon

Malcolm

. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet. 1994; 8: 269–274.

90.

Müller

Warman

M.L.

Mulliken

J.B.

Weber

J.L.

. Assignment of a gene locus involved in craniosynostosis to chromosome 5qter. Hum Mol Genet. 1993; 2: 119–122.

91.

Mulliken

J.B.

Steinberger

Kunze

Müller

. Molecular diagnosis of bilateral coronal synostosis. Plast Reconstr Surg. 1999; 104: 1603–1615.

92.

Mulvihill

J.J.

. Craniofacial syndromes: no such things as a single gene disease [editorial]. Nat Genet. 1995; 9: 101–103.

93.

Murray

J.E.

Swanson

L.T.

. Midface osteotomy and advancement for craniosynostosis. Plast Reconstr Surg. 1968; 41: 299–306.

94.

Ortiz-Monasterio

Fuente del Campo

. Refinements on the monobloc orbitofacial advancement. In: Caronni

E.P.

, ed. Craniofacial Surgery. Boston: Little, Brown; 1985: 263.

95.

Ortiz-Monasterio

Fuente del Campo

Carillo

. Advancement of the orbits and the midface in one piece, combined with frontal repositioning for the correction of Crouzon syndrome. Plast Reconstr Surg. 1978; 61: 507–516.

96.

Ousterhout

D.K.

Melsen

. Cranial base deformity in Apert syndrome. Plast Reconstr Surg. 1982; 69: 254–263.

97.

Park

W.J.

Theda

Maestri

N.E.

Meyers

G.A.

Fryburg

J.S.

Dufresne

Cohen

Jr Jabs

E.W.

. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet. 1995; 57: 321–328.

98.

Pawl

R.P.

Sugar

. Zenker's solution in the surgical treatment of craniosynostosis J Neurosurg. 1972; 36: 604–607.

99.

Paznekas

W.A.

Cunningham

M.L.

Howard

T.D.

Korf

B.R.

Lipson

M.H.

Grix

A.W.

Feingold

Goldberg

Borochowitz

Aleck

Mulliken

J.B.

Yin

Jabs

E.W.

. Genetic heterogeneity of Saethre-Chotzen syndrome, dueto TWIST and FGFR mutations. Am J Hum Genet. 1998; 62: 1370–1380.

100.

Persing

Babler

Winn

H.R.

Jane

Rodeheaver

. Age as a critical factor in the success of surgical correction of craniosynostosis. J Neurosurg. 1981; 54: 601–606.

101.

Pfeiffer

R.A.

. Dominant Erbliche Akrocephalosyndaktylie. Z Kinderheilkd. 1964; 90: 301–320.

102.

Polley

J.W.

Figueroa

A.A.

. Management of severe maxillary deficiency in childhood and adolescence through distraction osteogenesis with an external adjustable, rigid distraction device. J Craniofac Surg. 1997; 8: 181–185.

103.

Posnick

J.C.

. Anterior plagiocephaly: unilateral synostosis and skull molding. In: Posnick

J.C.

, ed. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000a: 127–161.

104.

Posnick

J.C.

. Apert syndrome: evaluation and staging of reconstruction. In: Posnick

J.C.

, ed. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000b: 308–342.

105.

Posnick

J.C.

. Brachycephaly: bilateral coronal synostosis without midface deficiency. In: Posnick

J.C.

, ed. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000c: 249–268.

106.

Posnick

J.C.

. Cloverleaf skull anomalies: evaluation and staging of reconstruction. In: Posnick

J.C.

, ed. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000d: 354–366.

107.

Posnick

J.C.

. Craniofacial dysostosis: management of the midface deformity. In: Bell

W.H.

, ed. Orthognathic and Reconstructive Surgery. Philadelphia: WB Saunders; 1992a: 1888.

108.

Posnick

J.C.

. Craniofacial dysostosis: staging of reconstruction and management of the midface deformity. Neurosurg Clin N Am. 1991; 2: 683–702.

109.

Posnick

J.C.

. Craniosynostosis: surgical management in infancy. In: Bell

W.H.

, ed. Orthognathic and Reconstructive Surgery. Philadelphia: WB Saunders; 1992b: 1839.

110.

Posnick

J.C.

. Crouzon syndrome: evaluation and staging of reconstruction. In: Posnick

J.C.

, ed. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000e: 271–307.

111.

Posnick

J.C.

. Monobloc and facial bipartition osteotomies: a step-by-step description of the surgical technique. J Craniofac Surg. 1996; 3: 229–250.

112.

Posnick

J.C.

. Pediatric cranial base surgery. In: Janecka

I.P.

, ed. Problems in Plastic and Reconstructive Surgery. Philadelphia: Lippincott; 1993: 107–129.

113.

Posnick

J.C.

. Pfeiffer syndrome: evaluation and staging of reconstruction. In: Posnick

J.C.

, ed. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000f: 343–353.

114.

Posnick

J.C.

. Posterior plagiocephaly: unilateral lambdoid synostosis and skull molding. In: Posnick

J.C.

, ed. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000g: 231–248.

115.

Posnick

J.C.

. Quantitative computer tomographic scan analysis: normal values and growth patterns. In: Posnick

J.C.

, ed. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000h: 36–54.

116.

Posnick

J.C.

. The craniofacial dysostosis syndrome: current reconstructive strategies. In: Current Concepts in Craniofacial Surgery. Clin Plast Surg. 1994a; 21: 585–598.

117.

Posnick

J.C.

. The effects of rigid fixation on the craniofacial growth of rhesus monkeys [discussion.] Plast Reconstr Surg. 1994b; 93: 11–13.

118.

Posnick

J.C.

. The monobloc and facial bipartition osteotomies. a step-by-step description of the surgical technique. In: Posnick

J.C.

, ed. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000i: 367–388.

119.

Posnick

J.C.

. The role of plate and screw fixation in the treatment of craniofacial malformations. In: Gruss

J.S.

Manson

P.M.

Yaremchuk

M.J.

, eds. Rigid Fixation on the Growing Craniomaxillofacial Skeleton. Boston: Butterworth; 1992c: 512.

120.

Posnick

J.C.

Al-Qattan

M.M.

Armstrong

. Monobloc and facial bipartition osteotomies: quantitative assessment of presenting deformity and surgical results based on computed tomography scans. J Oral Maxillofac Surg. 1995; 53: 358–367.

121.

Posnick

J.C.

Al-Qattan

M.M.

Armstrong

. Monobloc and facial bipartition osteotomies reconstruction of craniofacial malformations: a study of extradural dead space. Plast Reconstr Surg. 1996; 1118–1128.

122.

Posnick

J.C.

Farkas

. Anthropometric surface measurements in the analysis of craniomaxillofacial deformities: normal values and growth trends. In: Posnick

J.C.

, ed. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000: 55–79.

123.

Posnick

J.C.

Farkas

L.G.

. The application of anthropometric surface measurements in craniomaxillofacial surgery. In: Farkas

L.G.

, ed. Anthropometry of the Head and Face. New York: Raven Press; 1994: 125–137.

124.

Posnick

J.C.

Goldstein

J.A.

Armstrong

Rutka

J.T.

. Reconstruction of skull defects in children and adolescents by the use of fixed cranial bone grafts: long term results. Neurosurgery. 1993a; 32: 785–791.

125.

Posnick

J.C.

Goldstein

J.A.

Clokie

. Advantages of the postauricular incision. Ann Plast Surg. 1992a; 29: 114–116.

126.

Posnick

J.C.

Goldstein

J.A.

Clokie

. Refinements in pterygomaxillary dissociation for total midface osteotomies: instrumentation, technique and CT scan analysis. Plast Reconstr Surg. 1993b; 91: 167–172.

127.

Posnick

J.C.

Lin

K.Y.

Jhawar

B.J.

Armstrong

. Apert syndrome: quantitative assessment in presenting deformity and surgical results after first-stage reconstruction by CT scan. Plast Reconstr Surg. 1994; 93: 489–497.

128.

Posnick

J.C.

Lin

K.Y.

Jhawar

B.J.

Armstrong

. Crouzon syndrome: quantitative assessment of presenting deformity and surgical results based on CT scans. Plast Reconstr Surg. 1993c; 92: 1027–1037.

129.

Posnick

J.C.

Nakano

Taylor

. A modified occlusal splint to avoid tracheotomy for total midface osteotomies. Ann Plast Surg. 1992b; 29: 223–230.

130.

Raimondi

A.J.

Gutierrez

F.A.

. A new surgical approach to the treatment of coronal synostosis. J Neurosurg. 1977; 46: 210–214.

131.

Reardon

Winter

R.M.

Rutland

Pulleyn

L.J.

Jones

B.M.

Malcolm

. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet. 1994; 8: 98–103.

132.

Renier

. Intracranial pressure in craniosynostosis: pre and postoperative recordings—correlation with functional results. In: Persing

J.A.

Edgerton

M.T.

Jane

J.A.

, eds. Scientific Foundations and Surgical Treatment of Craniosynostosis. Baltimore: Williams and Wilkins; 1989: 263–269.

133.

Renier

Arnaud

Cinalli

Sebag

Zerah

Marchac

. Prognosis for mental function in Apert syndrome. J Neurosurg. 1996; 85: 66–72.

134.

Renier

Sainte-Rose

Marchac

Hirsch

J.F.

. Intracranial pressure in craniosynostosis. J Neurosurg. 1982; 57: 370–377.

135.

Rougerie

Derome

Anquez

. Craniostenosis et dysmorphies craniofaciales. Principes d'une nouvelle technique de traitement et ses resultats. Neurochirurgie. 1972; 18: 429–440.

136.

Rutland

Pulley

L.J.

Reardon

. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet. 1995; 9: 173–176.

137.

Shillito

Jr . A plea for early operation for craniosynostosis. Surg Neurol. 1992; 37: 182–188.

138.

Shillito

Jr Matson

D.D.

. Craniosynostosis: a review of 519 surgical patients. Pediatrics. 1968; 41: 829–853.

139.

Slaney

S.F.

Oldridge

Hurst

J.A.

Moriss-Kay

G.M.

Hall

C.M.

Poole

M.D.

Wilkie

A.O.

. Differential effects of FGFR2 mutations on syndactyly and cleft plate in Apert syndrome. Am J Med Genet. 1996; 58: 923–932.

140.

Steinberger

Mulliken

J.B.

Müller

. Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. Hum Mutat. 1996; 8: 386–390.

141.

Tessier

. Autogenous bone grafts taken from the calvarium for facial and cranial applications. Clin Plast Surg. 1982; 9: 531–538.

142.

Tessier

. Osteotomies totales de la face. Syndrome de Crouzon, syndrome D'Apert: oxycephalies, scaphocephalies, Turricephalies. Ann Chir Plast. 1967; 12: 273–286.

143.

Tessier

. The definitive plastic surgical treatment of the severe facial deformities of craniofacial dysostosis: Crouzon and Apert diseases. Plast Reconstr Surg. 1971; 48: 419–442.

144.

Tessier

. The monobloc and frontofacial advancement: do the pluses outweigh the minuses? [discussion.] Plast Reconstr Surg. 1993; 91: 988.

145.

Tuite

G.F.

Chong

W.K.

Evanson

Narita

Taylor

Harkness

W.F.

Jones

B.M.

Hayward

R.D.

. The effectiveness of papilledema as an indicator of raised intracranial pressure in children with craniosynostosis. Neurosurgery. 1996; 38: 272–278.

146.

Van der Meulen

J.C.

. Medial faciotomy. Br J Plast Surg. 1979; 32: 339–342.

147.

Vannier

M.W.

Gado

Marsh

J.L.

. Three-dimensional computer graphics for craniofacial surgical planning and evaluation. Comput Graph. 1983; 17: 263.

148.

Vannier

M.W.

Pilgram

T.K.

Marsh

J.L.

Kraemer

B.B.

Rayne

S.C.

Gado

M.H.

Moran

C.J.

McAlister

W.H.

Shackelford

G.D.

Hardesty

R.A.

. Craniosynostosis: diagnostic imaging with three-dimensional CT presentation. AJNR Am J Neuroradiol. 1994; 15: 1861–1869.

149.

Virchow

. Uber den Cretinismus, nametlichin Franken und uber pathologische Schadelforamen. Ver Phys Med Cesselsch Wurzburg. 1851; 2: 230.

150.

Waitzman

A.A.

Posnick

J.C.

Armstrong

Pron

G.E.

. Craniofacial skeletal measurements based on computed tomography: Part I. Accuracy and reproducibility. Cleft Palate Craniofac J. 1992a; 29: 112–117.

151.

Waitzman

A.A.

Posnick

J.C.

Armstrong

Pron

G.E.

. Craniofacial skeletal measurements based on computed tomography. Part II. Normal values and growth trends. Cleft Palate Craniofac J. 1992b; 29: 118–128.

152.

Wall

S.A.

Goldin

J.H.

Hockley

A.D.

Wake

M.J.

Poole

M.D.

Briggs

. Fronto-orbital re-operation in craniosynostosis. Br J Plast Surg. 1994; 47: 180–184.

153.

Warman

M.L.

Mulliken

J.B.

Hayward

P.G.

Müller

. Newly recognized autosomal dominant disorder with craniosynostosis. Am J Med Genet. 1993; 46: 444–449.

154.

Webster

M.K.

Donoghue

D.J.

. FGFR activation in skeletal disorders: too much of a good thing [review.] Trends Gent. 1997; 13: 178–182.

155.

Whitaker

L.A.

Bartlett

S.P.

Schut

Bruce

. Craniosynostosis: an analysis of the timing, treatment and complications in 164 consecutive patients. Plast Reconstr Surg. 1987; 80: 195–212.

156.

Whitaker

L.A.

Schut

Kerr

L.P.

. Early surgery for isolated craniofacial dysostosis: improvement and possible prevention of increasing deformity. Plast Reconstr Surg. 1977; 60: 575–581.

157.

Wilkes

Rutland

Pulleyn

L.J.

Reardon

Moss

Ellis

J.P.

Winter

R.M.

Malcolm

. A recurrent mutation, Ala391Glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. J Med Genet. 1996; 33: 744–748.

158.

Wilkie

A.O.

Slaney

S.F.

Oldridge

Poole

M.D.

Asworth

G.J.

Hockley

A.D.

Hayward

R.D.

David

D.J.

Pulleyn

L.J.

Rutland

. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995; 9: 165–172.

159.

Williams

J.K.

Cohen

S.R.

Burstein

F.D.

Hudgins

Boydston

Sims

. A longitudinal, statistical study of reoperation rates in craniosynostosis. Plast Reconstr Surg. 1997; 100: 305–310.

160.

Wolfe

S.A.

Morrison

Page

L.K.

Berkowitz

. The monobloc and frontofacial advancement: do the pluses outweigh the minuses? Plast Reconstr Surg. 1993; 91: 977–987.

161.

Wolford

L.M.

Cooper

R.L.

. Orthognathic surgery in the growing cleft patient and its effect on growth (abstract). Presented at the American Association of Oral and Maxillofacial Surgeons Annual Scientific Sessions; September 1987; Anaheim, California.

162.

Wolford

L.M.

Cooper

R.L.

El Deeb

. Orthognathic surgery in the young cleft patient and the effect on growth (abstract). Presented at the American Cleft Palate–Craniofacial Association Annual Meeting; May 1990; St. Louis, Missouri.