Two children with JS who required open heart surgery are presented and anesthetic management issues discussed. [jhu.pure.elsevier.com]

Four del11qter cases are presented. Hypertelorism/telecanthus, abnormally slanted palpebral fissures, abnormal retinal findings, nasolacrimal duct obstruction, anomalous extraocular muscles, amblyopia, and microcornea were found. [ncbi.nlm.nih.gov]

It is most commonly presented with psychomotor and physical growth retardation, dysmorphic facial features, thrombocytopenia or pancytopenia. [endocrine-abstracts.org]

× presentation about Jacobsen syndrome presentation about Jacobsen syndrome More Related Content 1. 11q Terminal Deletion Disorder Jacobsen Syndrome Done by : Lamya Alsadhan. Supervised by : Ms. Rafah Almeer. 2. [slideshare.net]

• Prolonged Bleeding

  Blood disorders, mainly in the form of easy bruising and prolonged bleeding due to low numbers of platelets (thrombocytopenia – reduction in the number of platelets present in the blood and referred to as Paris-Trousseau syndrome) are common. [contact.org.uk]

  As affected individuals age, platelet numbers increase, but many individuals still bruise easily and experience prolonged bleeding episodes suggesting that the platelets may not function properly. [rarediseases.org]

• Disability

  Content may have been edited for style, clarity or length. advertisements Disabled World is an independent disability community established in 2004 to provide disability news and information to people with disabilities, seniors, their family and/or carers [disabled-world.com]

  Eighteen genes were deleted from the Jacobsen region, including KIRREL3, which is associated with intellectual disability. [ega-archive.org]

  It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder. The syndrome is believed to occur in approximately 1 out of every 100,000 births. [checkrare.com]

  This patient had dysmorphic features, congenital heart disease, and intellectual disability. Since Dr. [doi.org]

  Most individuals with JS have intellectual disability (ranging from mild learning disabilities to severe intellectual disability) and behavioral problems, requiring care by a pediatrician specializing in behavioral/developmental disabilities. [orpha.net]

• Single Transverse Palmar Crease

  Fig. 1. a Dysmorphic facial appearance. b, c Low-set ears. d, e Partial single transverse palmar crease. Fig. 2. Computed tomography image showing dextrocardia. [karger.com]

• Cardiomegaly

  X-ray studies may reveal abnormal enlargement of the heart (cardiomegaly) or malformation of other heart structures. An EKG, which records the heart’s electrical impulses, may reveal abnormal electrical patterns. [rarediseases.org]

• Jaundice

  At the neonatal period she had physiological jaundice. Developmental milestones were normal, she started walking and talking at the age of 1 year. Brain MRI results taken at the age of 3 years were normal. [karger.com]

• Hearing Impairment

  They exhibited hearing impairment, otitis media, fusions of ossicles to the middle ear wall, and deformed stapes. [ncbi.nlm.nih.gov]

  Case presentation We herein report an unusual case of a 19-year-old male, non-smoker, with a medical history of moderate cognitive disorder, facial deformities, lower limb skeletal malformation and hearing impairment, who was referred to the outpatient [endocrine-abstracts.org]

  The Gtube delivers food directly into the stomach For abnormalities of the heart: Monitoring heart function Surgical repair of the heart defect For abnormalities of the ear and sinuses: Antibiotics for frequent bacterial infections Hearing aids for hearing [dovemed.com]

• Abnormal Behavior

  Our patient has several well-described features of Jacobsen syndrome including macrocephaly, dysmorphic facial features, developmental delay, congenital cardiac abnormalities, behavior problems and white matter lesions. [neurology.org]

• Short Neck

  Anesthetic issues related to the care of patients with JS concern airway management secondary to short neck, abnormal mouth shape and micrognathia/retrognathia, a high incidence of cardiac anomalies, and platelet dysfunction. [jhu.pure.elsevier.com]

  It is characterized by failure to thrive, psychomotor retardation, craniofacial anomalies (e.g., microbrachycephaly, short nose with a low, depressed nasal bridge, microretrognathism, low-set ears), ocular abnormalities, a short neck, pancytopenia, and [accessanesthesiology.mhmedical.com]

• Carp-Like Mouth

  mouth Carp-shaped mouth Fish mouth Large, carp-shaped mouth Wide, carp-shaped mouth [ more ] 0010806 [rarediseases.info.nih.gov]

• Epistaxis

  Our patient had one complication of significant bleeding post-operatively; epistaxis post nasal septum repair. [scirp.org]

• Seizure

  The patient had growth restriction, petechiae, thrombocytopenia, dilation of renal pelvis, congenital heart defects, and seizures. [ncbi.nlm.nih.gov]

  Seizure 0001250 Spina bifida 0002414 Talipes 0001883 Trigonocephaly Triangular skull shape Wedge shaped skull [ more ] 0000243 Webbed neck Neck webbing 0000465 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth [rarediseases.info.nih.gov]

  Born on November 15, the baby was 4 weeks old at the time of his unlawful seizure. [culturavietii.ro]

  […] epicanthal folds, a broad nasal bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears), craniosynostosis, eye abnormalities, congenital heart disease, intellectual disability, behavioral problems including ADHD and autism, seizures [orpha.net]

  Seizures began at 4 months of age and responded well to Topamax. The patient’s platelet count at birth was 52 K/cu mm. Due to expected platelet dysfunction, all surgeries and procedures were preceded by prophylactic platelet transfusions. [scirp.org]

• Cesarean Section

  We suggest that prenatal diagnosis and vigilant perinatal care including a cesarean section are warranted for patients with 11q23 deletion syndrome. [ncbi.nlm.nih.gov]

  Our patient was born by cesarean section at term with a weight of 3,500 g (50th–75th centile). At the neonatal period she had physiological jaundice. Developmental milestones were normal, she started walking and talking at the age of 1 year. [karger.com]

  Case description A full-term male (weight was 2870 g, height was 50 cm, Apgar score was 7/7) was delivered via cesarean section at 38 because of threatening fetal hypoxia (discharge of meconium-colored amniotic fluid and lack of effect of labor induction [journals.eco-vector.com]

  Patients’ presentation Patient 1 A female newborn, second child of healthy Italian nonconsanguineous parents, was delivered at 37+ 4 weeks of gestation by cesarean section for fetal growth restriction (FGR) and polyhydramnios. [ijponline.biomedcentral.com]

  Delivery is spontaneous in about 65% of cases, whereas Cesarean section is performed in 35% of cases. [ojrd.biomedcentral.com]

(See Workup .) Treatment for Sjögren syndrome is largely based on symptoms (eg, lotion for dry skin, artificial tears for dry eyes). [emedicine.medscape.com]

[…] games: Encourage the child to speak Use glasses: To improve visual problems Alternative Medicine for Treatment of Jacobsen Syndrome The following alternate medicine and therapies are known to help in the treatment or management of Jacobsen Syndrome: [tabletwise.net]

Conclusions The Ponseti method should be used as a first-line treatment for syndromic and non-idiopathic clubfoot to obtain a fully functional foot. The treatment of syndromic clubfoot requires multiple plaster casts. [journals.eco-vector.com]

Treatment cannot be repetitive or stereotype as it has to continuously adapt to the individual's progression. Integrating play within Neurodevelopmental treatment (NDT) is proven to have many benefits in improving developmental delay. [physio-pedia.com]

Your specialist will discuss how long you should take your treatment but, in many cases, treatment is continued for as long as it is helping. Methylphenidate Methylphenidate is the most commonly used medication for ADHD. [nhs.uk]

Treatment of metabolic syndrome. [science.gov]

Visual prognosis is generally good. Retinal dysplasia and coloboma seem associated with del11q23. ABCG4, NCAM, and Mfrp are candidate genes in this region that theoretically may be disrupted. [ncbi.nlm.nih.gov]

Prognosis - Jacobsen syndrome Approximately 25% of affected children die before two years of age mainly from cardiac defects, a tendency to bleed, or infection. Except for respiratory infections, the remainder of children are generally healthy. [checkorphan.org]

Signs and symptoms Symptoms of Jacobsen syndrome are variable and the prognosis for an affected child depends on the presence of life-threatening birth defects or medical problems. [encyclopedia.com]

Prognosis About 20% of children die during the first two years of life, most commonly due to complications from congenital heart disease, and less commonly from bleeding. [orpha.net]

The analysis indicates that the etiology of brain hemorrhages in Jacobsen syndrome is likely multifactorial. A likely cause (or causes) was identified in three of the cases, and additional potential risk factors were identified. [ncbi.nlm.nih.gov]

Etiology The deletion size ranges from ~7 to 20Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion usually extending to the telomere. [orpha.net]

Therefore, detailed functional analysis of terminal 11q region is warranted to elucidate etiology of JBS and their clinical presentation. 1. Grossfeld, P.D., Mattina, T., Lai, Z. The 11q terminal deletion disorder: a prospective study of 110 cases. [journals.sagepub.com]

Etiology[edit | edit source] Jacobsen Syndrome is caused by the loss of genetic material in chromosome 11 as an entirely random error in cell division in most cases. [physio-pedia.com]

Author information 1 Department of Epidemiology & Health Promotion, New York University Colleges of Dentistry and Nursing, New York City, New York. [ncbi.nlm.nih.gov]

Summary Epidemiology To date, over 200 cases have been reported in the literature. The prevalence is estimated at 1/100,000 births, with a female/male ratio of 2:1. [orpha.net]

Epidemiological data from 20 European studies. The DECODE study group. European Diabetes Epidemiology Group. Diabetes epidemiology: collaborative analysis of diagnostic criteria in Europe. [heart.bmj.com]

Our aim is to identify and describe the current epidemiology, diagnostic methods, and treatment of Mirizzi syndrome. [science.gov]

Future studies in a larger cohort of patients will more precisely define the pathophysiology of the immunodeficiency in JS. [ncbi.nlm.nih.gov]

1Medical School, National and Kapodistrian University of Athens, Pathophysiology, Athens, Greece; 2Laiko General Hospital, Orthopaedics, Athens, Greece Introduction Jacobsen syndrome (JS) is a rare gene disorder caused by a terminal deletion of the long [endocrine-abstracts.org]

Pathophysiology Bacteria travels from the middle ear to the mastoid air cells, which contain highly vascular marrow and are susceptible to infection [5]. [eyewiki.aao.org]

A literature search was performed using different databases, including Medline, Cochrane, Embase, Medscape, PubMed, using keywords: Mirizzi syndrome, epidemiology, markers, pathophysiology, clinical presentation, diagnosis, and treatment. [science.gov]

Cranioplasty was performed for prevention of the increased intracranial pressure at three months of age. Surgical correction for strabismus was in the treatment plan. [ncbi.nlm.nih.gov]

Can Jacobsen Syndrome be Prevented No specific guidelines exist for the prevention of Jacobsen syndrome. However, periodic medical screening tests may be performed if there are past occurrences in family members. [primehealthchannel.com]