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Plastic and Reconstructive Surgery Aug 2022Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have... (Review)
Review
BACKGROUND
Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have greater impacts on vision than development, this review sought to ascertain the prevalence of optic nerve atrophy in syndromic craniosynostosis and to look for potential predictive factors.
METHODS
The authors conducted a retrospective chart review of all children with syndromic craniosynostosis treated at a single center.
RESULTS
Of 442 patients with syndromic craniosynostosis, complete ophthalmologic records were available for 253. Although no instances of optic nerve atrophy were noted among those with Saethre-Chotzen or Muenke syndromes, an overall 14.7 percent prevalence was noted among those with Apert (7.8 percent), Crouzon (27.9 percent), and Pfeiffer syndromes (23.1 percent), with initial diagnoses occurring at a mean age of 10 years. The presence of a Chiari malformation was found to significantly correlate with the subsequent diagnosis of optic nerve atrophy (OR, 3.544; p = 0.002); however, the timing of the first cranial vault procedure, presence of a ventriculoperitoneal shunt, degree of brachycephaly, number of vault expansions, and diagnosis of sleep apnea, did not show significant associations.
CONCLUSIONS
A substantial percentage of children with Apert, Crouzon, and Pfeiffer syndromes were found to develop optic nerve atrophy, with a prevalence likely to trend higher with longer follow-up. Chiari malformations were the only significant potential predictor for optic nerve atrophy. With the goal of preventing visual losses, more frequent monitoring for raised intracranial pressure with ophthalmologic evaluations and magnetic resonance imaging measurements of optic nerve sheath diameters should be considered.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, III.
Topics: Acrocephalosyndactylia; Arnold-Chiari Malformation; Atrophy; Child; Craniosynostoses; Humans; Infant; Optic Nerve; Retrospective Studies
PubMed: 35671456
DOI: 10.1097/PRS.0000000000009367 -
Plastic and Reconstructive Surgery Apr 2022Visual impairment secondary to orbital and periorbital dysmorphology is frequent in Pfeiffer syndrome patients. The etiopathogenesis of this aberrancy, however, remains...
BACKGROUND
Visual impairment secondary to orbital and periorbital dysmorphology is frequent in Pfeiffer syndrome patients. The etiopathogenesis of this aberrancy, however, remains unclear.
METHODS
Untreated Pfeiffer syndrome patients (n = 31) and normal control subjects (n = 43) were compared. Craniometric and volumetric analyses related to the orbital and periorbital anatomy were performed using Materialise (Leuven, Belgium) software.
RESULTS
Overall, orbital cavity volume of Pfeiffer patients is reduced by 28 percent (p < 0.001), compared to normal, starting before 3 months of age (p = 0.004). Globe volume was diminished by 10 percent (p = 0.041) before 3 months of age, yet tended to catch up thereafter. However, the retrobulbar soft-tissue volume remained smaller beyond 1 year of age (17 percent, p = 0.003). Globe volume projection beyond the bony orbit increased in all observed ages (82 percent, p < 0.001). The volumes of sphenoid bone, maxilla, and mandible proportionately were restricted by 24 to 25 percent (p = 0.003 to 0.035) before 3 months of age. The volume of maxilla and mandible gradually approximate normal; however, the sphenoid bone volume in Pfeiffer patients remains less than normal (p = 0.002) into childhood. The anteroposterior length of both the zygoma and the maxilla was reduced by 14 percent (p < 0.001). Anterior positioning of the zygoma is less by 23 percent (p < 0.001) in Pfeiffer patients overall, with anterior positioning of maxilla reduced similarly by 23 percent (p < 0.001).
CONCLUSIONS
Pfeiffer syndrome patients develop decreased retrobulbar soft-tissue and globe volume, along with a restricted orbital cavity volume in infancy. Significant hypoplasia of the sphenoid bone is associated with more severe central facial (maxilla) retrusion, compared to lateral facial structures (zygoma).
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, II.
Topics: Acrocephalosyndactylia; Cephalometry; Child; Humans; Maxilla; Orbit; Zygoma
PubMed: 35171849
DOI: 10.1097/PRS.0000000000008928 -
Plastic and Reconstructive Surgery Apr 2022The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. The authors report a...
BACKGROUND
The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. The authors report a two-staged technique for distraction lengthening of the Apert thumb using a robust cohort of pediatric patients.
METHODS
The authors retrospectively reviewed medical records of pediatric patients with Apert syndrome who underwent thumb distraction lengthening between 1999 and 2019. The technique was two-staged: (1) application of uniplanar distractor and phalangeal osteotomy, followed by (2) distractor removal, bone grafting, and fixation. Clinical records, preoperative and postoperative radiographs, and photographs were reviewed.
RESULTS
Twenty-two patients (41 thumbs) with Apert syndrome were identified and treated (mean age at initial distraction, 11.5 years). A mean distraction gap of 31.3 mm was achieved over a median time of 40.0 days. The mean healing index was 26.3 days per centimeter. The thumbnail complex was lengthened a median length of 3.0 mm. The median follow-up time was 5.0 years, with complications occurring in 36.4 percent (eight out of 22) of patients. A delayed bone union occurred in one patient, and rotational malunion occurred in one patient.
CONCLUSION
Although long-term outcomes data are needed, thumb distraction lengthening following syndactyly release in patients with Apert syndrome is safe and should be considered to augment the overall appearance and functionality of the hand.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Therapeutic, IV.
Topics: Acrocephalosyndactylia; Child; Finger Phalanges; Hand; Humans; Osteogenesis, Distraction; Retrospective Studies; Thumb
PubMed: 35157629
DOI: 10.1097/PRS.0000000000008929 -
Oral and Maxillofacial Surgery Clinics... Aug 2022Patients with syndromic craniosynostosis can present with midface hypoplasia, abnormal facial ratios, and obstructive sleep apnea. These symptoms can all be improved... (Review)
Review
Patients with syndromic craniosynostosis can present with midface hypoplasia, abnormal facial ratios, and obstructive sleep apnea. These symptoms can all be improved with midface advancement, but it is essential to evaluate the specific morphologic characteristics of each patient's bony deficiencies before offering subcranial advancement. Midface hypoplasia in Crouzon syndrome is evenly distributed between the central and lateral midface and reliably corrected with Le Fort III distraction. In contrast, the midface hypoplasia in Apert/Pfeiffer syndromes occurs in both an axial and a sagittal plane, with significantly more nasomaxillary hypoplasia compared with the orbitozygomatic deficiency.
Topics: Craniofacial Dysostosis; Craniosynostoses; Face; Humans; Osteogenesis, Distraction; Osteotomy, Le Fort
PubMed: 35787822
DOI: 10.1016/j.coms.2022.01.002 -
Child's Nervous System : ChNS :... Sep 2019Pfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hypoplasia, and broad thumbs and toes. The syndrome has... (Review)
Review
INTRODUCTION
Pfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hypoplasia, and broad thumbs and toes. The syndrome has been divided into three clinical subtypes based on clinical findings.
METHODS
This review will specifically examine the most severe type, Pfeiffer syndrome type 2, focusing on its genetics and molecular biology.
CONCLUSION
This subtype of the syndrome is caused by de novo sporadic mutations, the majority of which occur in the fibroblast growth factor receptor type 1 and 2 (FGFR1/2) genes. There is not one specific mutation, however. This disorder is genetically heterogeneous and may have varying phenotypic expressions that in various cases have overlapped with other similar craniosynostoses. A specific missense mutation of FGFR2 causing both Pfeiffer and Crouzon syndromes has been identified, with findings suggesting that gene expression may be affected by polymorphism within the same gene. Compared to other craniosynostosis-related disorders, Pfeiffer syndrome is the most extreme phenotype, as the underlying mutations cause wider effects on the secondary and tertiary protein structures and exhibit harsher clinical findings.
Topics: Acrocephalosyndactylia; Genotype; Humans; Phenotype; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2
PubMed: 31222448
DOI: 10.1007/s00381-019-04244-7 -
The British Journal of Oral &... Jun 2021Tracheotomy in infancy helps patients with Pfeiffer syndrome to survive by preventing respiratory crisis, but difficulty in decannulation may consequently be a...
Tracheotomy in infancy helps patients with Pfeiffer syndrome to survive by preventing respiratory crisis, but difficulty in decannulation may consequently be a challenge. This study has investigated the regional abnormalities of the nasopharyngeal airway in children with Pfeiffer syndrome to provide an anatomical basis for the surgical treatment and decannulation of the upper airway. Seventy-two preoperative computed tomograms (CT) (Pfeiffer syndrome n=30; control n=42) were included. The airway volume, cross-sectional area, and cephalometrics were measured using Materialise software. Patients with Pfeiffer syndrome developed a 50% (p<0.001) reduction of nasal airway volume, and a 44% (p=0.003) restriction in pharyngeal airway volume. In patients with Pfeiffer syndrome the cross-sectional area at the choana was only half that of the controls (p<0.001). The posterior width of the nasal airway in patients with Pfeiffer syndrome was shortened by 13% (p=0.003), and the height reduced by 21% (p<0.001). The cross-sectional areas at the condylion and gonion levels, which indicate the calibre of the pharyngeal airway at the entrance and midsection, were reduced by 67% (p<0.001) and 47% (p<0.001), respectively, when compared with the controls. The volume of the nasal airway in patients with Pfeiffer syndrome was significantly restricted in length, height, and width, and by choanal stenosis in all cases in this cohort. The reduced anteroposterior length of the nasal airway contributed to the shortened maxilla more than the anteroposterior position. The limited height and width of the nasal pathway was the result of a hypoplastic sphenoid. Restricted mediolateral and anteroposterior dimensions were evident across the entire course of the pharyngeal airway. Mediolateral maxillary expansion in addition to maxillomandibular advancement is therefore likely to benefit these patients.
Topics: Acrocephalosyndactylia; Cephalometry; Child; Cone-Beam Computed Tomography; Humans; Maxilla; Palatal Expansion Technique; Pharynx
PubMed: 33863588
DOI: 10.1016/j.bjoms.2020.10.008 -
Facial Plastic Surgery Clinics of North... Feb 2024This article reviews the most common craniofacial syndromes encountered in clinical practice. Key physical features of each condition are highlighted to aid in accurate... (Review)
Review
This article reviews the most common craniofacial syndromes encountered in clinical practice. Key physical features of each condition are highlighted to aid in accurate recognition and diagnosis. Optimal individualized treatment approaches are discussed.
Topics: Humans; Physical Examination; Syndrome
PubMed: 37981410
DOI: 10.1016/j.fsc.2023.07.002 -
The Journal of Clinical Endocrinology... Jul 2021
Topics: Humans; Insulin Resistance; Prediabetic State
PubMed: 33765140
DOI: 10.1210/clinem/dgab198 -
Atlas of the Oral and Maxillofacial... Mar 2022
Review
Topics: Craniosynostoses; Humans; Infant; Orbit; Plastic Surgery Procedures
PubMed: 35256112
DOI: 10.1016/j.cxom.2021.11.013 -
Neuro-Chirurgie Nov 2019Craniosynostosis (CS) is defined as the premature fusion of cranial sutures, leading to an abnormal skull shape. The overall incidence is between 1: 2,000 and 1: 3,000... (Review)
Review
Craniosynostosis (CS) is defined as the premature fusion of cranial sutures, leading to an abnormal skull shape. The overall incidence is between 1: 2,000 and 1: 3,000 live births. Genetic causes are found in 20% of cases. CS can be isolated (non-syndromic CS/NSCS) or they can be part of multiple congenital abnormalities syndromes (syndromic CS/SCS). A few SCS, such as Crouzon, Pfeiffer, Apert and Saethre-Chotzen syndromes, are very well known and their molecular bases have been clarified in the 90s and early 2000s, thus showing the major role of the FGF receptors and TWIST signaling pathways in the etiology of these conditions. The recent availability of powerful molecular tools for genetic diagnosis, such as whole exome or whole genome sequencing, has led to the characterization of the molecular bases of an increasing number of CS, thus emphasizing the significant genetic heterogeneity of these conditions, and blurring the limit between SCS and NSCS. The genetic characterization of patients affected by CS leads to appropriate genetic counseling and provides relevant information concerning comorbidity and prognosis. Nevertheless, this can also lead to the detection of susceptibility factors with low penetrance whose interpretation in genetic counseling is difficult and it raises the question of its cost-effectiveness for health systems. These aspects suggest the need of a patient-tailored clear rationale for performing genetic tests. In this study, we reviewed the main molecular etiologies reported in the last 15 years of either SCS or NSCS, and we propose a systematic multidisciplinary approach as well as a diagnostic flowchart for the genetic evaluation of these patients.
Topics: Adult; Craniosynostoses; Genetic Testing; Humans; Infant, Newborn; Syndrome
PubMed: 31605683
DOI: 10.1016/j.neuchi.2019.10.003