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Journal of Plastic, Reconstructive &... Feb 2022Cerebellar tonsillar herniation (TH) occurs frequently in syndromic craniosynostosis; however, the exact pathogenesis is unknown. This study evaluates the association...
PURPOSE
Cerebellar tonsillar herniation (TH) occurs frequently in syndromic craniosynostosis; however, the exact pathogenesis is unknown. This study evaluates the association between skull base deformities and TH in syndromic craniosynostosis.
METHODS
Retrospective study MRI study comparing syndromic craniosynostosis to controls. Measured parameters included clivus length, skull base angle, Boogard's angle, foramen magnum area, and cerebellar tonsillar position (TP). The association between skull base parameters and TP was evaluated with linear mixed models, correcting for age and risk factors for TH in craniosynostosis (hydrocephalus, intracranial hypertension, craniocerebral disproportion, and lambdoid synostosis).
RESULTS
Two hundred and eighty-two scans in 145 patients were included, and 146 scans in 146 controls. The clivus was smaller at birth, and its growth was retarded in all syndromes. The skull base angle was smaller at birth in Apert and Crouzon syndromes, and the evolution through time was normal. Boogard's angle was smaller at birth in Apert syndrome, and its evolution was disturbed in Apert and Saethre-Chotzen syndromes. The foramen magnum was smaller at birth in Crouzon and Saethre-Chotzen syndromes, and its growth was disturbed in Apert, Crouzon, and Saethre-Chotzen syndromes. TP was higher at birth in Apert syndrome, but lowered faster. In Crouzon syndrome, TP was lower at birth and throughout life. A smaller clivus and larger foramen magnum were associated with a lower TP in controls (p<0.001, p=0.007), and in Crouzon syndrome, this applied to only foramen magnum size (p=0.004).
CONCLUSION
The skull base and its growth are significantly different in syndromic craniosynostosis compared to controls. However, only foramen magnum area is associated with TP in Crouzon syndrome.
Topics: Acrocephalosyndactylia; Craniofacial Dysostosis; Craniosynostoses; Humans; Infant; Infant, Newborn; Retrospective Studies; Skull Base; Syndrome
PubMed: 34799294
DOI: 10.1016/j.bjps.2021.09.066 -
Prilozi (Makedonska Akademija Na... Mar 2017Prematurely fused metopic suture results in developmental anomaly named trigonocephaly. The treatment of trigonocephaly is a surgical reconstruction, starting from the...
INTRODUCTION
Prematurely fused metopic suture results in developmental anomaly named trigonocephaly. The treatment of trigonocephaly is a surgical reconstruction, starting from the simple suturectomy toward the complicated cranial vault reconstructions with aim to obtain enough endocranial space for normal development of the brain and aesthetic correction as well.
THE AIM
The aim of our paper is to present our experience on this pathology in the Republic of Macedonia, stressing the trigonocephaly as one of the rare forms of craniosynostosis. Our material: During a period of 20 years (from 1996 to 2015) at the Pediatric department of the Clinic for Neurosurgery in Skopje, we observed 18 babies with trigonocephaly, including one with Carpenter syndrome and trigonocephaly, 14 males and 4 females. All children had simple trigonocephaly, one had syndromic trigonocephaly (Carpenter's syndrome). According to Oi and Matsumoto classification done in 19865 severe trigonocephaly is observed in 11 cases and, moderate trigonocephaly in 7 cases. Our method: Our treatment consisted of slightly modified Di Rocco's3 surgical procedure named "shell" operation, adding transposition of the "bone flap".
RESULTS
The postoperative period was uneventful except for the expected forehead swelling. The babies were discharged from the hospital on average at the 8th postoperative day. At the three months control after the surgery, the head had excellent aesthetic appearance, with regular psychomotor development according to the age of the patient (Fig 3а and 3b). We had no serious complications except the expected postoperative swelling of the forehead. All operated children had excellent "long term" aesthetic effect and normal psychomotor development.
CONCLUSION
The early recognition of these anomalies including all craniosynostoses, the deformities of the newborn and infant's head and the preventive operative reconstruction would prevent abnormal disturbance of the psychomotor development during the child's growth. The multidisciplinary approach can prevent new disabled individuals in the society. Our technique allows shortening the entire surgical procedure, especially in the departments where blood saving devices are not available.
Topics: Acrocephalosyndactylia; Age Factors; Child Development; Cranial Sutures; Craniosynostoses; Female; Humans; Infant; Infant, Newborn; Male; Neurosurgical Procedures; Postoperative Complications; Plastic Surgery Procedures; Republic of North Macedonia; Time Factors; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 28593893
DOI: 10.1515/prilozi-2017-0004 -
Journal of Applied Oral Science :... 2009Craniosynostosis syndromes are characterized by premature closure of one or more cranial sutures, associated with other malformations, the most frequent of which are the... (Comparative Study)
Comparative Study
Craniosynostosis syndromes are characterized by premature closure of one or more cranial sutures, associated with other malformations, the most frequent of which are the Crouzon and Apert syndromes. Few studies in the literature have addressed the oral health of these individuals. The purpose of this study was to compare the periodontal status of individuals with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes before toothbrushing and compare the efficiency of plaque removal before and after mechanical toothbrushing. The probing depth, plaque index (according to Löe and O'Leary), clinical attachment level, gingival index (according to Silness and Löe) and amount of keratinized mucosa were evaluated before toothbrushing, and the O'Leary plaque index was assessed before and immediately after toothbrushing, on the same day, in 27 individuals aged 11 to 36 years. There was statistically significant difference in the mean probing depth and clinical attachment level among regions (p=0.00; p=0.01, respectively). The gingival index did not reveal statistically significant differences. With regard to the plaque index, the left region exhibited higher plaque index values than the right and anterior regions. No significant results were found in the analysis of keratinized mucosa. Comparison of the O'Leary plaque index before and after toothbrushing revealed statistically significant difference for all syndromes except for the Pfeiffer syndrome (p<0.05). In conclusion, there was no difference in the periodontal status among individuals with syndromic craniosynostosis. The posterior region was more affected than the anterior region as to the presence of plaque, loss of insertion and probing depth. Individuals with Pfeiffer syndrome exhibited greater toothbrushing efficiency than individuals with the other craniosynostosis syndromes.
Topics: Acrocephalosyndactylia; Adolescent; Adult; Child; Craniofacial Dysostosis; Craniosynostoses; Dental Plaque Index; Female; Humans; Male; Periodontal Attachment Loss; Periodontal Index; Periodontal Pocket; Syndrome; Toothbrushing; Young Adult
PubMed: 19148400
DOI: 10.1590/s1678-77572009000100004 -
PloS One 2017Betatrophin has been identified as a marker linking liver with beta cell function and lipid metabolism in murine models. Until now, the regulation of circulating...
OBJECTIVE
Betatrophin has been identified as a marker linking liver with beta cell function and lipid metabolism in murine models. Until now, the regulation of circulating betatrophin in humans is not entirely clear. We here analyzed the relation of betatrophin levels to phenotypes of the metabolic syndrome and speculated that renal function might influence circulating betatrophin levels and explain age-dependent changes of betatrophin.
SUBJECTS
We analyzed blood samples from 535 individuals participating in the Metabolic Syndrome Berlin Potsdam study.
RESULTS
In a crude analysis we found a positive correlation between betatrophin levels and HbA1c (r = 0.24; p < 0.001), fasting glucose (r = 0.20; p < 0.001) and triglycerides (r = 0.12; p = 0.007). Furthermore betatrophin was positively correlated with age (r = 0.47; p <0.001), systolic blood pressure (r = 0.17; p < 0.001), intima media thickness (r = 0.26; p < 0.001) and negatively correlated with CKD-EPI eGFR (r = -0.33; p < 0.001) as an estimate of renal function. Notably, eGFR remained highly associated with betatrophin after adjustment for age, waist circumference, gender, HbA1c and lipid parameters in a multivariate linear regression model (β = -0.197, p< 0.001).
CONCLUSIONS
Our data suggest that circulating levels of betatrophin depend on age, gender, waist circumference, total/HDL cholesterol ratio and renal function. Especially the association to eGFR highlights the importance for future studies to address renal function as possible influence on betatrophin regulation and consider eGFR as potential confounder when analyzing the role of betatrophin in humans.
Topics: Adult; Aged; Angiopoietin-Like Protein 8; Angiopoietin-like Proteins; Blood Glucose; Blood Pressure; Carotid Intima-Media Thickness; ErbB Receptors; Female; Glucose Tolerance Test; Glycated Hemoglobin; Humans; Kidney; Lipid Metabolism; Male; Metabolic Syndrome; Middle Aged; Peptide Hormones; Triglycerides
PubMed: 28257453
DOI: 10.1371/journal.pone.0173197 -
Frontiers in Neurology 2023Pfeiffer syndrome is a rare genetic disorder characterized by craniosynostosis, broad thumbs and big toes, and partial syndactyly of the hands and feet. This case report...
INTRODUCTION
Pfeiffer syndrome is a rare genetic disorder characterized by craniosynostosis, broad thumbs and big toes, and partial syndactyly of the hands and feet. This case report presents the case of a girl diagnosed with type 2 Pfeiffer syndrome who experienced severe obstructive sleep apnea (OSA).
CASE REPORT
The patient had been using an oropharyngeal airway since the age of 4 months due to snoring and witnessed apnea during sleep. At 11 months old, she was referred to our sleep clinic because of growth limitation and gross motor ability issues. Polysomnography (PSG) showed severe obstructive hypopnea before any treatment, and revealed severe central sleep apnea with the oropharyngeal airway in place. Positive airway pressure (PAP) therapy was initiated, which improved both her sleep and gross motor ability.
CONCLUSION
This case report emphasizes the importance of thorough sleep studies for diagnosing sleep and breathing disorders in Pfeiffer syndrome patients and highlights the effectiveness of PAP therapy in managing these conditions.
PubMed: 38274866
DOI: 10.3389/fneur.2023.1337236 -
Life (Basel, Switzerland) Sep 2023Syndactyly is the most common congenital malformation of the hand, leading to the fusion of the digits and frequently affecting the ring and middle fingers. The...
Syndactyly is the most common congenital malformation of the hand, leading to the fusion of the digits and frequently affecting the ring and middle fingers. The incidence is 1 out of 2500 children, predominantly occurring in boys and Caucasians. Clinically, the malformation may present as a soft tissue or bony fusion, resulting in the union of the fingers characterised as complete or incomplete. This fusion may involve the phalanges but may also extend to the carpal/tarsal bones, even to the metacarpal or metatarsal level, rarely to the distal end of the forearm and lower leg. The malformation is mostly isolated but may occur together with other disorders or malformations such as synostosis, acro-syndactyly, cleft hand, clinodactyly, or polydactyly. Syndromic syndactyly can be observed in cases of Apert syndrome, Poland's syndrome, Pfeiffer syndrome, and many others. A girl born in June of 2019 was diagnosed with congenital malformation of the right hand at birth-affecting the right middle, ring, and little fingers, respectively. After X-ray imaging, the fusion of the third and fourth proximal phalanges to a common metacarpal was identified, forming a unique diagnosis of clino-syndactyly with metacarpal aplasia. Surgical intervention was advocated for, including a wedge osteotomy to correct the synchondrosis at the phalangeal base and a dorsal flap to close the interdigital space created during the correction of the III and IV. fingers. A trapezoid flap for the release of the syndactyly of the IV and V. fingers was applied. The paper aims to present this surgical correction and its results regarding an atypical case of syndactyly with clinodactyly and metacarpal aplasia.
PubMed: 37763346
DOI: 10.3390/life13091943 -
Tidsskrift For Den Norske Laegeforening... May 2004Complex craniofacial synostosis is a group of rare genetic disorders characterized by premature closure of the sutures in the craniofacial skeleton and which to varying... (Review)
Review
BACKGROUND
Complex craniofacial synostosis is a group of rare genetic disorders characterized by premature closure of the sutures in the craniofacial skeleton and which to varying degrees affects the extremities.
MATERIAL AND METHODS
On the basis of relevant literature, we present a review of syndromal craniofacial synostosis.
RESULTS
Phenotypically, the complex craniofacial syndromes have many similarities. Synostosis of the sutures of the cranial vault can result in a variety of skull deformations, depending on the sutures involved, the sequence of premature closure, and the time of closure. Synostosis of the sutures in the skull base and facial skeleton leads to shallow orbits, exophthalmus, hypertelorism, midface retrusion, and prognathia.
INTERPRETATION
Precise diagnosis of complex craniofacial syndromes may be difficult solely on the basis of a clinical examination. However, several of the most common syndromes are caused by mutations in genes that code for fibroblast growth-factor receptors. Children with a suspected complex craniofacial syndrome should be referred to genetic testing.
Topics: Acrocephalosyndactylia; Craniosynostoses; Humans; Infant; Infant, Newborn; Mutation; Phenotype; Receptors, Fibroblast Growth Factor
PubMed: 15131704
DOI: No ID Found -
Sao Paulo Medical Journal = Revista... Jul 2003To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis.
OBJECTIVE
To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis.
DESCRIPTION
The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis.
COMMENTS
Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.
Topics: Acrocephalosyndactylia; Diagnosis, Differential; Fatal Outcome; Humans; Infant, Newborn; Male
PubMed: 14595512
DOI: 10.1590/s1516-31802003000400008 -
Diabetes Care Nov 2013Insulin clearance is decreased in type 2 diabetes mellitus (T2DM) for unknown reasons. Subjects with metabolic syndrome are hyperinsulinemic and have an increased risk...
OBJECTIVE
Insulin clearance is decreased in type 2 diabetes mellitus (T2DM) for unknown reasons. Subjects with metabolic syndrome are hyperinsulinemic and have an increased risk of T2DM. We aimed to investigate the relationship between hepatic insulin clearance (HIC) and different components of metabolic syndrome and tested the hypothesis that HIC may predict the risk of metabolic syndrome.
RESEARCH DESIGN AND METHODS
Individuals without diabetes from the Metabolic Syndrome Berlin Brandenburg (MeSyBePo) study (800 subjects with the baseline examination and 189 subjects from the MeSyBePo recall study) underwent an oral glucose tolerance test (OGTT) with assessment of insulin secretion (insulin secretion rate [ISR]) and insulin sensitivity. Two indices of HIC were calculated.
RESULTS
Both HIC indices showed lower values in subjects with metabolic syndrome (P < 0.001) at baseline. HIC indices correlate inversely with waist circumference, diastolic blood pressure, fasting glucose, triglycerides, and OGTT-derived insulin secretion index. During a mean follow-up of 5.1 ± 0.9 years, 47 individuals developed metabolic syndrome and 33 subjects progressed to impaired glucose metabolism. Both indices of HIC showed a trend of an association with increased risk of metabolic syndrome (HICC-peptide odds ratio 1.13 [95% CI 0.97-1.31], P = 0.12, and HICISR 1.38 [0.88-2.17], P = 0.16) and impaired glucose metabolism (HICC-peptide 1.12 [0.92-1.36], P = 0.26, and HICISR 1.31 [0.74-2.33] P = 0.36), although point estimates reached no statistical significance.
CONCLUSIONS
HIC was associated with different components of metabolic syndrome and markers of insulin secretion and insulin sensitivity. Decreased HIC may represent a novel pathophysiological mechanism of the metabolic syndrome, which may be used additionally for early identification of high-risk subjects.
Topics: Adult; Aged; Diabetes Mellitus, Type 2; Fasting; Female; Glucose Tolerance Test; Humans; Insulin; Insulin Resistance; Liver; Male; Metabolic Syndrome; Middle Aged; Risk; Triglycerides; Waist Circumference
PubMed: 24026549
DOI: 10.2337/dc12-1203 -
Plastic and Reconstructive Surgery.... Jan 2018The pattern of cranial venous drainage in syndromic craniosynostosis is unpredictable and not adequately understood. Collateral channels substitute for stenotic venous...
BACKGROUND
The pattern of cranial venous drainage in syndromic craniosynostosis is unpredictable and not adequately understood. Collateral channels substitute for stenotic venous sinuses and pose potential risk for surgical intervention. The purpose of this study was to analyze the patterns of venous drainage in patients with syndromic craniosynostosis and their influence on operative planning and morbidity.
METHODS
A retrospective study of patients with syndromic craniosynostosis from 2000 to 2013 was performed. Demographic data were collected including phenotype and associated pathologies. Pre- and/or postoperative venous imaging was reviewed for venous sinus stenosis, collateral emissaries, and persistent fetal sinuses. Categorization of anomalous venous drainage was performed, and the relationship with surgical morbidity was assessed.
RESULTS
Forty-one patients were identified. Anomalies were present in 31 patients (76%) consisting of dural sinus stenosis in 28 (68%), dilated emissaries in 26 (63%), and fetal sinuses in 7 (17%). Pfeiffer syndrome was most commonly associated with anomalous drainage (100%). Venous anomalies were associated with elevated intracranial pressure (ICP), shunted hydrocephalus, Chiari malformations, and sleep apnea. In 5 cases, the surgical plan was adjusted based on anomalous anatomy. No mortalities occurred. Intraoperative complication rate was 7.3%, all with anomalous drainage. Median estimated blood loss was 1,100 cc for patients with anomalies versus 400 cc without anomalies ( = 0.181).
CONCLUSION
Cranial venous anomalies are commonly detected in patients with syndromic craniosynostosis and may affect surgical morbidity and outcome with a higher estimated blood loss, alteration of procedure, and postoperative morbidity. Detailed preoperative imaging of the venous drainage is therefore recommended in cases of syndromic synostosis.
PubMed: 29464157
DOI: 10.1097/GOX.0000000000001613