Crouzonʼs Syndrome Associated with Acanthosis Nigricans: Ramifications for the Craniofacial Surgeon

Breitbart, Arnold S.; Eaton, Charles; McCarthy, Joseph G.

doi:10.1097/00000637-198904000-00005

Cited by 28 publications

(21 citation statements)

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“…In contrast, the mutations of Type I Pfeiffer and Muenke syndrome enhance the affinity for FGF9 a natural ligand for both FGFR1c and FGFR3c expressed in the epithelium. During early human limb bud development (26)(27)(28)(29)(30)(31)(32) FGFR1 and FGFR2 are expressed in both the ectoderm and mesoderm while FGFR3 is undetectable (43). At later stages (35-38 days gestation), FGFR2 appears as the first marker of prechondrogenic condensations.…”

Section: Linker Region Mutations Of Fgfr1 Fgfr2 and Fgfr3 Results Inmentioning

confidence: 99%

“…There have been no reports of the FGFR3 A391E mutation in cases of Crouzon syndrome in the absence of acanthosis nigricans. Since the original description by Curth in 1971, approximately 37 additional cases have been described in the literature (25)(26)(27)(28)(29)(30)(31)(32). Although this would appear to make it one of the rarest forms of syndromic craniosynostosis the phenotypic similarities with Crouzon syndrome may lead to under diagnosis.…”

Section: Crouzon Syndrome With Acanthosis Nigricans (Crouzonodermoskementioning

confidence: 99%

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Syndromic craniosynostosis: from history to hydrogen bonds

Cunningham

Seto

Ratisoontorn

et al. 2007

Orthod Craniofacial Res

143

120

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The syndromic craniosynostoses, usually involving multiple sutures, are hereditary forms of craniosynostosis associated with extracranial phenotypes such as limb, cardiac, CNS and tracheal malformations. The genetic etiology of syndromic craniosynostosis in humans is only partially understood. Syndromic synostosis has been found to be associated with mutations of the fibroblast growth factor receptor family (FGFR1, -R2, -R3), TWIST1, MSX2, and EFNB1. Apert, Pfeiffer, Crouzon, and Jackson-Weiss syndromes are due to gain-of-function mutations of FGFR2 in either the Ig II-III linker region (Apert) or Ig III domain. Loss of function mutations of TWIST1 and gain-of-function mutations of MSX2 lead to Saethre-Chotzen and Boston-type syndromes, respectively. The mutations in Pfeiffer (FGFR1), Muenke (FGFR3), and Apert syndrome (FGFR2) are caused by the same amino acid substitution in a highly conserved region of the Ig II-III linker region of these proteins, which suggests that these receptor tyrosine kinases have an overlapping function in suture biology. In this review we will discuss the historical descriptions, current phenotypes and molecular causes of the more common forms of syndromic craniosynostosis.

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Section: Linker Region Mutations Of Fgfr1 Fgfr2 and Fgfr3 Results Inmentioning

confidence: 99%

Section: Crouzon Syndrome With Acanthosis Nigricans (Crouzonodermoskementioning

confidence: 99%

Syndromic craniosynostosis: from history to hydrogen bonds

Cunningham

Seto

Ratisoontorn

et al. 2007

Orthod Craniofacial Res

143

120

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“…CAN is considered to be an independent clinical entity and, although most cases are sporadic, it is proposed to have an autosomal dominant mode of inheritance (4, 6, 7). We analyzed the clinical features observed in two patients with CAN syndrome and in other 33 previously reported cases (2,4,(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Clinical features were included in this analysis, as they were described in each report.…”

Section: Discussionmentioning

confidence: 99%

Crouzon with acanthosis nigricans. Further delineation of the syndrome

et al. 2007

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Patients with Crouzon and acanthosis nigricans syndrome show craniofacial features similar to those observed in patients with classic Crouzon syndrome, in addition to acanthosis nigricans with peculiar characteristics. More severe physical manifestations, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, which are unusual in individuals with classic Crouzon syndrome, are reported in these patients. The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation. We describe two unrelated patients showing this mutation and compare their clinical features with those of other patients with CAN reported in the literature. In addition to craniosynostosis with crouzonoid facies and acanthosis nigricans (present in all patients), melanocytic nevi, choanal atresia or stenosis, hydrocephalus, Chiari malformations and oral abnormalities were observed in the majority of the 35 patients analyzed. Vertebral anomalies and conductive hearing loss were present with less frequency. Some characteristics considered typical of this condition (jaw cementomas, acanthomas and finger abnormalities) were absent in most of the patients.

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“…Crouzon syndrome with acanthosis nigricans (CAN) (also called ''Crouzondermoskeletal syndrome'') is characterized by craniosynostosis, ocular proptosis, midfacial hypoplasia, and acanthosis nigricans, a specific skin disorder of hyperkeratosis and hyperpigmentation [79][80][81][82]. It is caused by a single point mutation in the FGFR3 gene, the same gene implicated in Muenke syndrome [80].…”

Section: Jackson-weiss Syndrome Beare-stevenson Syndrome and Crouzonmentioning

confidence: 99%