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The Cleft Palate-craniofacial Journal :... Nov 2015To describe the subtle clinical features, genetic considerations, and management of progressive postnatal pansynostosis, a rare form of multisutural craniosynostosis...
OBJECTIVE
To describe the subtle clinical features, genetic considerations, and management of progressive postnatal pansynostosis, a rare form of multisutural craniosynostosis that insidiously occurs after birth and causes inconspicuous cranial changes. Design, Participants, Setting : The study is a retrospective chart review of all patients diagnosed with progressive postnatal pansynostosis at a major craniofacial center between 2000 and 2009. Patients with kleebattschädel were excluded.
RESULTS
Nineteen patients fit our inclusion criteria. Fifteen patients had a syndromic diagnosis: Crouzon syndrome (n = 8), Saethre-Chotzen syndrome (n = 5), and Pfeiffer syndrome (n = 2). With the exception of one patient with moderate turricephaly, all patients had a relatively normal head shape with cranial indices ranging from 0.72 to 0.93 (mean, 0.81). Patients were diagnosed at an average of 32.4 months; craniosynostosis was suspected based on declining percentile head circumference (n = 14), detection of an apical prominence (n = 12), papilledema (n = 7), and worsening exorbitism (n = 3). Nearly all patients had evidence of increased intracranial pressure.
CONCLUSION
Progressive postnatal pansynostosis is insidious; diagnosis is typically delayed because the clinical signs are subtle and appear gradually. All infants or children with known or suspected craniosynostotic disorder and a normal head shape should be carefully monitored; computed tomography is indicated if there is any decrease in percentile head circumference or symptoms of intracranial pressure.
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Child, Preschool; Craniofacial Dysostosis; Craniosynostoses; Disease Progression; Female; Growth Disorders; Hearing Loss, Sensorineural; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Retrospective Studies
PubMed: 25350344
DOI: 10.1597/14-092 -
Journal of AAPOS : the Official... Aug 2016Pfeiffer syndrome is a rare, genetic condition characterized by craniosynostosis and midface hypoplasia, with resultant ophthalmic sequelae. The gold standard of...
BACKGROUND
Pfeiffer syndrome is a rare, genetic condition characterized by craniosynostosis and midface hypoplasia, with resultant ophthalmic sequelae. The gold standard of treatment is fronto-orbital advancement. We analyzed a large database of Pfeiffer syndrome patients to report the rate of ophthalmic sequelae and the long-term visual outcomes after craniofacial surgery and to compare Pfeiffer syndrome to other craniosynostosis syndromes.
METHODS
The medical records of Pfeiffer syndrome patients examined between 1988 and 2010 were examined retrospectively. Diagnosis was based on clinical and genetic testing. Long-term data were presented as a rate of incidence per person-year to overcome variable follow-up times.
RESULTS
A total of 22 patients were included. Proptosis (n = 21 [95%]), refractive error (n = 13 [59%]), and strabismus (n = 12 [55%]) were the most common primary features at presentation. Exposure keratitis (n = 9 [41%]) and amblyopia (n = 3 [14%]) were the most common secondary features. At presentation, 24 eyes [86%] with documented best-corrected visual acuity were normal; 4 [14%] were impaired; and none were blind. Fronto-orbital advancement reduced the rate of proptosis from 28%/person-year at presentation to 2%/person-year. There were no cases of active exposure disease postoperatively. At last follow-up, there was a 7%/person-year rate of impaired vision secondary to corneal scarring and amblyopia and a 3%/person-year rate of blindness-all from optic atrophy.
CONCLUSIONS
In this study, the rates of proptosis and exposure keratitis were high in Pfeiffer syndrome, especially compared to Apert and Crouzon syndromes. Fronto-orbital advancement was successful in correcting orbital abnormalities. Long-term ophthalmic follow-up is essential to ensure best visual outcome.
Topics: Acrocephalosyndactylia; Amblyopia; Craniofacial Dysostosis; Craniosynostoses; Humans; Retrospective Studies; Vision Disorders
PubMed: 27418250
DOI: 10.1016/j.jaapos.2016.04.007 -
The Journal of Craniofacial Surgery Sep 2014As of now, there is no review of Carpenter syndrome (CS) for the craniofacial surgeon. This article seeks to unify salient recent studies to provide a resource for... (Review)
Review
IMPORTANCE
As of now, there is no review of Carpenter syndrome (CS) for the craniofacial surgeon. This article seeks to unify salient recent studies to provide a resource for surgical planning and overview of this challenging syndrome.
OBJECTIVES
The phenotypic characteristics of CS are diverse, and the molecular underpinnings are equally complex. To date, the surgical management of this syndrome has not been fully elucidated, with only a number of selected case studies illustrating proper approach to treatment. This article summarizes treatment approaches from selected CS literature, analyzes craniofacial reconstruction techniques used in related syndromes, and discusses their possible role in CS.
DESIGN
Articles from 1901 to 2013 were selected and reviewed by 5 researchers using the most recent literature of the genetics, pathophysiology, phenotype, and management of CS.
RESULTS
Mutations in RAB23 have been implicated in the pathogenesis of CS. The RAB23 is a small, 35.43-kb gene with 1 noncoding and 6 coding regions that encode a guanosine triphosphatase responsible for regulating intracellular vesicular trafficking. Given the scarcity of CS cases, an algorithm for CS management has not been established. However, early release of craniosynostoses with fronto-orbital advancement is clearly indicated in the CS literature, particularly in cases of elevated intracranial pressure. Management of other craniofacial malformations is less clear. Literature from other craniofacial syndromes, including Apert syndrome and craniofacial microsomia, was helpful in establishing a putative timeline for craniofacial intervention.
CONCLUSIONS
This study collates surgical management data from CS and other related syndromes as a means of establishing a cohesive approach to the surgical treatment of CS.
Topics: Acrocephalosyndactylia; Humans; Mutation; Patient Care Planning; Phenotype; Plastic Surgery Procedures; rab GTP-Binding Proteins
PubMed: 25162549
DOI: 10.1097/SCS.0000000000001121 -
Indian Journal of Dermatology,... 2010
Topics: Acrocephalosyndactylia; Female; Humans; Infant; Isotretinoin; Male; Young Adult
PubMed: 21079334
DOI: 10.4103/0378-6323.72479 -
Child's Nervous System : ChNS :... Aug 1993This paper discusses 33 cases of Apert's syndrome which were treated in the Australian Craniofacial unit at the adelaide Children's Hospital. The main features were...
This paper discusses 33 cases of Apert's syndrome which were treated in the Australian Craniofacial unit at the adelaide Children's Hospital. The main features were discussed. We found that mild ventricular dilatation is common in Apert's syndrome but without associated raised intracranial pressure. Severe ventricular dilatation was seen in only one case. No shunt procedures were performed. We also studied the changes in the ventricular size after transcranial corrective procedures. There was no significant change in the ventricular size, the increase in the skull volume was compensated by expansion of the brain tissue and to some extent by increase in the subarachnoid space. Two cases with unusual features are also described.
Topics: Acrocephalosyndactylia; Cephalometry; Cerebral Ventricles; Craniotomy; Female; Follow-Up Studies; Humans; Hydrocephalus; Infant; Male; Tomography, X-Ray Computed
PubMed: 8252521
DOI: 10.1007/BF00306277 -
Clinics in Plastic Surgery Apr 1991Apert patients frequently provide a challenge in airway management. For simple procedures, a safe anesthetic plan can be formulated if the anatomic factors affecting the... (Review)
Review
Apert patients frequently provide a challenge in airway management. For simple procedures, a safe anesthetic plan can be formulated if the anatomic factors affecting the airway are carefully considered. More extensive and prolonged craniofacial reconstructive surgeries require more monitoring and include all the problems associated with difficult intubation, hazardous airway management, massive blood loss and fluid shift, and long anesthetic times. After assessment of all these specific needs, the anesthesiologist will be presented with a difficult but not insurmountable risk.
Topics: Acrocephalosyndactylia; Anesthesia, Endotracheal; Humans; Intraoperative Care; Postoperative Complications; Preanesthetic Medication; Risk Factors
PubMed: 2065485
DOI: No ID Found -
Archivos Argentinos de Pediatria Apr 2021The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this...
The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence Síndrome de Saethre-Chotzen: a propósito de un caso Saethre-Chotzen syndrome: a case report of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome. The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.
Topics: Acrocephalosyndactylia; Cranial Sutures; Heterozygote; Humans; Infant, Newborn; Nuclear Proteins; Twist-Related Protein 1
PubMed: 33749202
DOI: 10.5546/aap.2021.e129 -
Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure.Pediatrics and Neonatology Oct 2009We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and...
We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome. She also displayed microcephaly, short palpebral fissures, and a smooth philtrum, which are clinical signs consistent with fetal alcohol syndrome. She suffered from multiple congenital anomalies and died at 41 days of age. Cardio-pulmonary failure, brain abnormalities, prematurity, and multiple complications contributed to her death. The patient displayed normal chromosomal numbers and type. DNA analysis did not reveal fibrobtast growth factor receptor (FGFR) genes FGFR1, FGFR2, FGFR3 or TWIST gene mutations. We review the previous reports of Pfeiffer syndrome and holoprosencephaly and describe our infant patient with Pfeiffer-like syndrome, holoprosencephaly, and heavy in utero maternal alcohol and smoking exposures.
Topics: Acrocephalosyndactylia; Alcohol Drinking; Female; Holoprosencephaly; Humans; Infant, Newborn; Receptors, Fibroblast Growth Factor; Smoking
PubMed: 19856868
DOI: 10.1016/S1875-9572(09)60069-3 -
The Journal of Craniofacial Surgery Jan 1998Broad toes are the classic clinical finding occurring in the feet in Pfeiffer's syndrome patients, but few cases undergo formal radiological assessment. However, the...
Broad toes are the classic clinical finding occurring in the feet in Pfeiffer's syndrome patients, but few cases undergo formal radiological assessment. However, the feet in other craniosynostosis syndromes resulting from mutations of the fibroblast growth factor receptor 2 gene have anomalies at many other sites within the feet, which raised the possibility that there may also be a wider range of anomalies other than broad big toes in the feet of those with Pfeiffer's syndrome. The object of this study was to assess prospectively the incidence and pattern of clinical and radiographic anomalies of the feet of patients with a confirmed diagnosis of Pfeiffer's syndrome. Twenty-two Pfeiffer's syndrome patients were examined both clinically and radiologically for anomalies of the feet. Clinical examination revealed broad big toes in 12 patients and syndactyly in 2. Radiographs of the feet were evaluated by a radiologist with an interest in skeletal dysplasia as well as by members of the Craniofacial team. A wider range of radiological than clinical anomalies involving the phalanges, metatarsals, and tarsals was seen. The severity of the anomalies observed ranged from normal to those resembling the feet of Apert's syndrome patients. Only 4 patients had radiologically normal feet. These radiographic findings suggest that there is a range of foot anomalies more extensive than the broad big toes, which are classically associated with Pfeiffer's syndrome.
Topics: Acrocephalosyndactylia; Adolescent; Child; Child, Preschool; Female; Foot Bones; Humans; Incidence; Infant; Male; Mutation; Prospective Studies; Radiography; Receptors, Fibroblast Growth Factor; Toes
PubMed: 9558574
DOI: 10.1097/00001665-199801000-00018 -
The Journal of Craniofacial Surgery Jan 2013Pfeiffer syndrome (PS) (MIM 101600) is one of the most common syndromic forms of craniosynostosis. It is characterized by craniosysnostosis, midface hypoplasia, broad...
Pfeiffer syndrome (PS) (MIM 101600) is one of the most common syndromic forms of craniosynostosis. It is characterized by craniosysnostosis, midface hypoplasia, broad and medially deviated thumbs, and great toes with partial syndactyly of the digits. Here, we described clinical and genetic features of 12 unrelated Thai individuals with PS. All 12 patients were sporadic, and advanced paternal age was found in 50% of the cases. Polymerase chain reaction sequencing of FGFR1 exon 5 and FGFR2 exons 8, 10, 15, 16, and 17 was performed in all PS patients and revealed 9 recurrent mutations in all patients. Most of the mutations clustered in exons 8 and 10 (9/12) accounting for 75% of PS cases. The most frequently detected mutation, p.S351C, was associated with the severe form of PS in the Thai population. Less frequent mutations in exons 16 (p.K641R) and 17 (p.G663E) were also identified. In addition, the p.P252R mutation in FGFR1 was detected in 1 PS patient with unilateral coronal craniosynostosis expanding the phenotypic spectrum of PS with this particular mutation. Knowing the mutation spectrum of the responsible genes could lead to the most effective strategy in identifying mutations causing Pfeiffer syndrome in the Thai population.
Topics: Acrocephalosyndactylia; Child; Child, Preschool; Exons; Female; Humans; Infant; Infant, Newborn; Male; Mutation; Polymerase Chain Reaction; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Thailand
PubMed: 23348274
DOI: 10.1097/SCS.0b013e3182646454