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Orphanet Journal of Rare Diseases Mar 2009Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The... (Review)
Review
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown.
Topics: Chromosomes, Human, Pair 11; Female; Humans; Infant, Newborn; Jacobsen Distal 11q Deletion Syndrome; Male
PubMed: 19267933
DOI: 10.1186/1750-1172-4-9 -
Orphanet Journal of Rare Diseases Mar 2009Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face,... (Review)
Review
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive. SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic. Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers. The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome). Prenatal diagnosis by ultrasonography is feasible at 18-24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible. There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal.
Topics: Abnormalities, Multiple; Arthrogryposis; Child; Contracture; Cytoskeletal Proteins; Face; Female; Genetic Predisposition to Disease; Genotype; Humans; Muscle, Skeletal; Phenotype; Syndrome; Troponin T
PubMed: 19309503
DOI: 10.1186/1750-1172-4-11 -
Orphanet Journal of Rare Diseases Jan 2007Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000... (Review)
Review
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.
Topics: Adolescent; Adult; Child; Child Development; Child, Preschool; Female; Genetic Counseling; Humans; Infant; Infant, Newborn; Intracellular Signaling Peptides and Proteins; Mutation, Missense; Noonan Syndrome; Pregnancy; Prenatal Diagnosis; Prognosis; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Protein Tyrosine Phosphatases
PubMed: 17222357
DOI: 10.1186/1750-1172-2-4 -
Acta Medica Academica Nov 2013Water fluoridation, is the controlled addition of fluoride to the water supply, with the aim of reducing the prevalence of dental caries. Current estimates suggest that... (Review)
Review
UNLABELLED
Water fluoridation, is the controlled addition of fluoride to the water supply, with the aim of reducing the prevalence of dental caries. Current estimates suggest that approximately 370 million people in 27 countries consume fluoridated water, with an additional 50 million consuming water in which fluoride is naturally occurring. A pre-eruptive effect of fluoride exists in reducing caries levels in pit and fissure surfaces of permanent teeth and fluoride concentrated in plaque and saliva inhibits the demineralisation of sound enamel and enhances the remineralisation of demineralised enamel. A large number of studies conducted worldwide demonstrate the effectiveness of water fluoridation. Objections to water fluoridation have been raised since its inception and centre mainly on safety and autonomy. Systematic reviews of the safety and efficacy of water fluoridation attest to its safety and efficacy; dental fluorosis identified as the only adverse outcome.
CONCLUSION
Water fluoridation is an effective safe means of preventing dental caries, reaching all populations, irrespective of the presence of other dental services. Regular monitoring of dental caries and fluorosis is essential particularly with the lifelong challenge which dental caries presents.
Topics: Adolescent; Cariostatic Agents; Child; Child, Preschool; Dental Caries; Fluoridation; Fluorosis, Dental; Global Health; Human Rights; Humans; Ireland; Male; Oral Health; Public Health; Socioeconomic Factors; Time Factors
PubMed: 24308393
DOI: 10.5644/ama2006-124.81 -
Clinical Ophthalmology (Auckland, N.Z.) 2017Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and... (Review)
Review
Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and globe retraction on attempted adduction, occasionally accompanied by upshoot or down-shoot. The etiopathogenesis of this condition can be explained by a spectrum of mechanical, innervational, neurologic and genetic abnormalities occurring independently or which influence each other giving rise to patterns of clinical presentations along with a complex set of ocular and systemic anomalies. Huber type I DRS is the most common form of DRS with an earlier presentation, while Huber type II is the least common presentation. Usually, patients with unilateral type I Duane syndrome have esotropia more frequently than exotropia, those with type II have exotropia and those with type III have esotropia and exotropia occurring equally common. Cases of bilateral DRS may have variable presentation depending upon the type of presentation in each eye. As regards its management, DRS classification based on primary position deviation as esotropic, exotropic or orthotropic is more relevant than Huber's classification before planning surgery. Surgical approach to these patients is challenging and must be individualized based on the amount of ocular deviation, abnormal head position, associated globe retraction and overshoots.
PubMed: 29133973
DOI: 10.2147/OPTH.S127481 -
Experimental Eye Research Apr 2020Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of... (Review)
Review
Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-called MAC spectrum. This review gives a brief overview of the developmental biology behind coloboma and its clinical presentation/spectrum. Special attention will be given to two prominent, syndromic forms of coloboma, namely, CHARGE (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies/deafness) and COACH (Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis) syndromes. Approaches employed to identify genes involved in optic fissure closure in animal models and recent advances in live imaging of zebrafish eye development are also discussed.
Topics: Abnormalities, Multiple; Animals; Ataxia; Brain; Cholestasis; Coloboma; Genetic Predisposition to Disease; Humans; Liver Diseases; Uvea
PubMed: 32032630
DOI: 10.1016/j.exer.2020.107940 -
The Neuroradiology Journal Dec 2021Sylvian fissure arteriovenous malformations are rare but important vascular lesions, whose importance lies in both haemorrhage and seizure risk. Although surgery has...
BACKGROUND
Sylvian fissure arteriovenous malformations are rare but important vascular lesions, whose importance lies in both haemorrhage and seizure risk. Although surgery has been recommended as a treatment, the overall estimation of success has not been reported to render outcomes easier to understand in comparison to other treatment modalities.
OBJECTIVES
This systematic review of the literature and two cases aims to illustrate the results of surgery as a contemporary treatment option and present a novel anatomical classification system for Sylvian fissure arteriovenous malformations.
MATERIALS AND METHODS
A systematic review was performed by searching MEDLINE (PubMed), EMBASE and Cochrane electronic bibliographic databases from conception to 2018. The following keywords were used: 'Sylvian fissure' AND 'AVM' OR 'arteriovenous malformation' OR 'intracranial arteriovenous malformation' OR 'cerebral arteriovenous malformation' OR 'brain arteriovenous malformation'. The search strategy was not limited by study design but only included keywords in the English language. In addition, two local institution Sylvian fissure arteriovenous malformations are presented and incorporated.
RESULTS
A total of nine full-text articles were included in the analysis. The results of reported cases and the literature review emphasise the role of surgery in the treatment of Sylvian fissure arteriovenous malformations, with an acceptable result in carefully selected patients. We propose a classification system which may inform the choice of surgical approach for these lesions.
CONCLUSIONS
Surgery remains the cornerstone of Sylvian fissure arteriovenous malformation treatment, which may apply to high-grade lesions in this special anatomical location.
Topics: Brain; Cerebral Cortex; Humans; Intracranial Arteriovenous Malformations; Seizures; Treatment Outcome
PubMed: 34086491
DOI: 10.1177/19714009211021776 -
Journal of Medical Genetics Nov 2006The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is... (Review)
Review
The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward-slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain-of-function mutations in four different genes BRAF, KRAS, mitogen-activated protein/extracellular signal-regulated kinase MEK1 and MEK2, all belonging to the same RAS-extracellular signal-regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP-2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS-ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.
Topics: Abnormalities, Multiple; Diagnosis, Differential; Digestive System Abnormalities; Eye Abnormalities; Facies; Female; Genes; Heart Defects, Congenital; Hematologic Diseases; Humans; Male; Mutation; Nervous System Malformations; Noonan Syndrome; Skin Abnormalities; Syndrome
PubMed: 16825433
DOI: 10.1136/jmg.2006.042796 -
AJNR. American Journal of Neuroradiology May 2020Focal signal abnormalities at the depth of the cerebellar fissures in children have recently been reported to represent a novel pattern of bottom-of-fissure dysplasia....
BACKGROUND AND PURPOSE
Focal signal abnormalities at the depth of the cerebellar fissures in children have recently been reported to represent a novel pattern of bottom-of-fissure dysplasia. We describe a series of patients with a similar distribution and appearance of cerebellar signal abnormality attributable to watershed injury.
MATERIALS AND METHODS
Twenty-three children with MR imaging findings of focal T2 prolongation in the cerebellar gray matter and immediate subjacent white matter at the depth of the fissures were included. MR imaging examinations were qualitatively analyzed for the characteristics and distribution of signal abnormality within posterior fossa structures, the presence and distribution of volume loss, the presence of abnormal contrast enhancement, and the presence and pattern of supratentorial injury.
RESULTS
T2 prolongation was observed at the depths of the cerebellar fissures bilaterally in all 23 patients, centered at the expected location of the deep cerebellar vascular borderzone. Diffusion restriction was associated with MR imaging performed during acute injury in 13/16 patients. Five of 23 patients had prior imaging, all demonstrating a normal cerebellum. The etiology of injury was hypoxic-ischemic injury in 17/23 patients, posterior reversible encephalopathy syndrome in 3/23 patients, and indeterminate in 3/23 patients. Twenty of 23 patients demonstrated an associated classic parasagittal watershed pattern of supratentorial cortical injury. Injury in the chronic phase was associated with relatively preserved gray matter volume in 8/15 patients, closely matching the published appearance of bottom-of-fissure dysplasia.
CONCLUSIONS
In a series of patients with findings similar in appearance to the recently described bottom-of-fissure dysplasia, we have demonstrated a stereotyped pattern of injury attributable to cerebellar watershed injury.
Topics: Cerebellum; Child; Child, Preschool; Female; Humans; Magnetic Resonance Imaging; Male; Neuroimaging; Posterior Leukoencephalopathy Syndrome
PubMed: 32327437
DOI: 10.3174/ajnr.A6532 -
BMJ Case Reports May 2014A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks...
A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. Immediately after birth, the infant was shifted to the nursery and was started on intravenous fluids and infusion prostaglandin E1 (Alprostidil). On examination, she had microcephaly, periorbital puffiness, a long philtrum, a broad nasal bridge and retrognathia, up slanting palpebral fissures, widely spaced nipples, a sacral dimple and right upper limb postaxial polydactyly. Postnatal echocardiography confirmed a large ostium secundum atrial septal defect with left to right shunt, right ventricle hypoplasia, pulmonary atresia with an intact septum and a large vertical patent ductus arteriosus. Ophthalmological examination showed a bilateral chorioretinal coloboma sparing disc and fovea. Karyotyping showed an extra small marker chromosome suggestive of the Cat eye syndrome.
Topics: Abnormalities, Multiple; Aneuploidy; Birth Weight; Chromosome Disorders; Chromosomes, Human, Pair 22; Ductus Arteriosus, Patent; Eye Abnormalities; Fatal Outcome; Female; Heart Defects, Congenital; Heart Septal Defects, Atrial; Heart Ventricles; Humans; Infant, Newborn; Microcephaly; Monitoring, Physiologic; Term Birth; Ultrasonography
PubMed: 24842361
DOI: 10.1136/bcr-2014-203923