A case of Crouzon syndrome with plagiocephaly and scaphocephaly / 中华整形外科杂志

In October 2017, a female patient, 3 years and 5 months of age, with Crouzon syndrome, associated with multiple craniosynostoses was admitted to Plastic Surgery Hospital. Combined intracranial and extracranial approaches of fronto-orbital advancement and cranial suture release were performed to treat plagiocephaly and scaphocephaly. The patient′s families were investigated. Corresponding mutations were detected by DNA sequencing. Therapeutic effect was satisfactory. The mutation was inherited for 5 generations. Genomic sequencing results showed that the exons of fibroblast growth factor receptor 2 gene in the child was mutated, which excessively activated downstream signals and caused craniosynostosis.

Effects of Different Doses of Sufentanil Citrate on Analgesic Effects of Crouzon Syndrome Children with Cra-niofacial Reconstruction / 中国药房

OBJECTIVE:To investigate the effects of different doses of sufentanil citrate on hemodynamic indexes and stress response indexes of Crouzon syndrome children with craniofacial reconstruction. METHODS:60 cases of Crouzon syndrome under-going craniofacial reconstruction were selected from our hospital during Jan. 2010-Jan. 2016,and then randomly divided into group A,group B and group C,with 20 cases in each group. 3 groups were given pump injection of Propofol injection 4-8 mg/(kg·h)for anesthesia induction+Sufentanil citrate injection [group A 0.3 μg/(kg·h),pump injection;group B 0.6 μg/(kg·h),pump injection;group C 1.0 μg/kg,iv,0.5 h/time] for anesthesia maintenance, Cisatracurium besilate for injection 0.1 mg/kg,iv,every 40 min, drug withdrawal 5 min before the end of surgery. The hemodynamic indexes(MAP,HR)and stress response indexes(ACTH,cor-tisol)were observed in 3 groups at different time points as well as the occurrence of ADR. RESULTS:MAP levels of group C at 5 min after skin incision,1 h after operation and immediately at the end of surgery were significantly higher than before anesthesia, while those of group B were significantly higher than group C at same time points. HR of group A at 1 h after surgery and that of group B at 5 min after skin incision and 1 h after surgery were significantly higher than before anesthesias;HR of group B at 1 h after surgery was significantly lower than that of group A,and its HR at 5 min after skin incision and 1 h after surgery were signifi-cantly lower than those of group C. ACTH levels of 3 groups at 5 min after skin incision,1 h after surgery and immediately after the end of surgery were significantly higher than before anesthesia. ACTH levels of group B at 5 min after skin incision,1 h after surgery and immediately after the end of surgery were significantly lower than those of group A and C,and the group A was signifi-cantly lower than the group C at same time points. Cortisol levels of group A at 1 h after surgery,and those of group C at 5 min af-ter skin incision,1 h after surgery and immediately after the end of surgery were significantly higher than before anesthesia. Corti-sol levels of group B at 1 h after surgery were significantly lower than those of group A;cortisol levels of group A at 5 min after skin incision and immediately after the end of surgery and those of group B at 5 min after skin incision,1 h after surgery and imme-diately after the end of surgery were all significantly lower than those of group C. There were statistical significance all above(P<0.05). No obvious ADR was found in 3 groups. CONCLU-SIONS:Pump injection of sufentanil citrate 0.6 μg/(kg·h) can maintain analgesic effect of Crouzon syndrome children with craniofacial reconstruction,can keep hemodynamics sta-ble and effectively inhibit stress response during surgery with good safety.

Genetic Syndromes Associated with Craniosynostosis

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

Arteriovenous Malformation in Crouzon Syndrome: A Case Report.

Crouzon syndrome, a hereditary syndrome of craniofacial dysostosis, is a triad of skull deformities, facial anomalies and exophthalmos . It accounts for approximately 4.8% of all cases of craniosynostosis with the prevalence of approximately 1 per 25,000 live births worldwide. This is a case of Crouzon syndrome with arteriovenous malformation over vertex which has not been reported so for in the literature.

Scalpel Cautery Adenotonsillectomy Done in a Case of Crouzon’s Syndrome.

Background/Objectives: Crouzon syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities and other associated abnormalities. Children with Crouzon syndrome frequently have obstructive sleep apnea due to the underdevelopment of the midface. Setting: Dept. of ENT, Head and Neck Surgery and Anesthesia, KVG Medical College, Sullia. Case report: A 12-year-old boy of Crouzon syndrome with chronic adenotonsillitis was managed by adenotonsillectomy under general anesthesia by scalpel cautery method. The boy responded well to surgery and the mild sleep disorder disappeared within a week uneventfully. Conclusion: Sleep disorders in this condition can be treated by improving the airway by selective procedures like midface advancement, mandibular expansion, adenotonsillectomy, uvulopalatopharyngoplasty, anterior tongue reduction and endoscopic tracheal granuloma excision.

Achados neuropsicolinguísticos na síndrome de Crouzon: relato de caso / Neuropsycholinguistic findings in Crouzon syndrome: case report

O objetivo do trabalho foi relatar um caso clínico sobre a síndrome de Crouzon, englobando as habilidades neuropsicolinguisticas. O estudo foi realizado com uma criança de oito anos e dois meses, do gênero masculino, com diagnóstico clínico da síndrome de Crouzon. Para a caracterização das habilidades foi realizada avaliação interdisciplinar com fonoaudiólogo, psicólogo e neurologista. A avaliação fonoaudiológica incluiu a avaliação das habilidades comunicativas, da linguagem oral, considerando as habilidades fonológicas, sintáticas, semânticas e pragmáticas, e da linguagem escrita. Para a avaliação neuropsicológica utilizou-se a escala Wechsler Scale for Children. A avaliação neurológica foi centrada no exame de ressonância magnética de encéfalo. O paciente também realizou avaliação audiológica, e apresentou perda auditiva condutiva de grau leve. Na avaliação clínica e formal da linguagem oral foi possível observar alterações nos aspectos fonológico e semântico da linguagem. Já com relação à linguagem escrita, observou-se desempenho aquém do esperado para a idade, caracterizado principalmente por alterações na escrita e na aritmética. Os resultados da avaliação neuropsicológica evidenciaram valores de Quociente Intelectual dentro dos padrões da normalidade. O resultado da ressonância magnética do encéfalo demonstrou alteração estrutural do sistema nervoso central. Pode-se concluir que os achados evidenciaram alterações nas habilidades de linguagem oral e escrita, além da presença de alteração estrutural do sistema nervoso central.

The aim of this study was to relate the neuropsycholinguistic abilities of a male child with eigth years and two months, diagnosed with Crouzon syndrome. The characterization of neropsycholinguitic abilities was based on a interdisciplinary evaluation carried out by a speech-language pathologist, a neurologist, and a psychologist. Speech-language evaluation included the assessment of communication skills, oral (phonological, syntactic, semantic and pragmatic abilities) and written language. The neuropsychological assessment used the Wechsler Scale for Children. The neurological evaluation was focused on the results of magnetic resonance imaging. The subject also carried out an audiological evaluation, which showed mild conductive hearing loss. In the oral language assessment, phonological and semantic deficits were observed. Written language performance was also below the expected for the subject's age, characterized mainly by writing and arithmetic deficits. The neuropsychological evaluation showed normal Intellectual Quotient. The results of the magnetic resonance imaging showed structural alterations of the central nervous system. Thus, the findings evidenced oral and written language deficits, and presence of structural alterations of the central nervous system.

Craniofacial morphologic alteration induced by bone-targeted mutants of FGFR2 causing Apert and Crouzon syndrome / 대한치과교정학회지

OBJECTIVE: Activating mutations in the fibroblast growth factor receptor-2 (FGFR2) have been shown to cause syndromic craniosynostosis such as Apert and Crouzon syndromes. The purpose of this pilot study was to investigate the resultant phenotypes induced by the two distinctive bone-targeted gene constructs of FGFR2, Pro253Arg and Cys278Phe, corresponding to human Apert and Crouzon syndromes respectively. METHODS: Wild type and a transgenic mouse model with normal FGFR2 were used as controls to examine the validity of the microinjection. Micro-CT and morphometric analysis on the skull revealed the following results. RESULTS: Both Apert and Crouzon mutants of FGFR2 induced fusion of calvarial sutures and anteroposteriorly constricted facial dimension, with anterior crossbite present only in Apert mice. Apert mice differed from Crouzon mice and transgenic mice with normal FGFR2 in the anterior cranial base flexure and calvarial flexure angle which implies a possible difference in the pathogenesis of the two mutations. In contrast, the transgenic mice with normal FGFR2 displayed normal craniofacial phenotype. CONCLUSION: Apert and Crouzon mutations appear to lead to genotype-specific phenotypes, possibly causing the distinctive sites and sequence of synostosis in the calvaria and cranial base. The exact function of the altered FGFR2 at each suture needs further investigation.

Midfacial distraction osteogenesis of Crouzon syndrome with RED(Rigid External Distraction) system / 대한치과교정학회지

Crouzon syndrome is one of the craniofacial syndromes characterized by craniosynostosis, midfacial hypolpasia and ocular proptosis. Distraction osteogenesis is becoming important technique to treat craniofacial dysplaisa. It has many advantages compared with standard orthognathic surgery. Maxillary distraction osteogenesis after Le Fort III osteotomy with the RED system presents successful maxillary protraction to Crouzon syndrome patient with severe maxillary deficiency. It also allows remarkable improvement of facial esthetics and respiratory functions.

Case Report of Osteomyelitis after Monobloc Advancement for the Treatment of a Crouzon's Syndrome

In 1912, Crouzon described a syndrome compromising the triad of cranial deformity, facial deformity, and exorbitism. Crouzon's syndrome occurs in 1 in 25,000 live births and follows an autosomal dominant mode of transmission. However 30 to 60% of cases are sporadic and represent fresh mutations. The 27-year-old female patient we report here has family history of two cases of Crouzon's syndrome. The patient had mild nasal obstruction and rhinorrhea, which didn't make the surgery absolutely contraindicated. The Monobloc advancement-Le Fort III osteotomy for midfacial advancement and the lamellar split osteotomy of supraobital bandeau for orbitofrontal advancement- were performed. After 8~12 weeks of patient follow up, CSF rhinorrhea was observed and infection was suspected. The primary focus of infection was supposed to be preexisting sinusitis of the patient. The infection didn't spread intracranially, which was contributed by intact inner table of cranium owing to the lamellar split osteotomy. In conclusion, 1) The importance of irradication of preexisting nasal / perinasal infection such as sinusitis cannot be emphasized too much, 2) How to obliterate the dead space between the inner and outer table, and 3) In terms of infection, at least, lamellar split osteotomy can be regarded superior to classical osteotomy, since inner table serves as a barrier of ascending infection.

A Case of FGFR2 Exon lllc Mutation in Crouzon Syndrome

Crouzon syndrome, an autosomal dominant disorder, has characteristic features of craniosynostosis, hypertelorism, exophthalmos, maxillary hypoplasia and relative mandibular prognathism. Mutations of fibroblast growth factor receptor 2 (FGFR2) gene are associated with craniosynostotic conditions, such as Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome, Apert syndrome and Beare-Stevenson cutis gyrata. We found one child with common morphological features of Crouzon syndrome. Interestingly, she was found to have Cys342Ser mutation in FGFR2 exon lllc which has been previously observed in Jackson-Weiss syndrome. This finding supports the variable expression of FGFR2 in human and allelic heterogeneity in these apparently clinically distinct craniosynostotic conditions.