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Verloove-Van Horick-Brubakk Syndrome

Verloove Vanhorick-Brubakk syndrome


Presentation

  • Epithelial atypia or dysplasia may be present. Causes The cause of PVS is unknown; however, genetic factors and nutritional deficiencies may play a role. It is more common in women, [2] particularly in middle age (peak age is over 50).[checkrare.com]
  • Although infants with hypothyroidism usually appear normal for up to three months after birth, early symptoms sometimes occur, including increased birth weight, puffy face, constipation and lethargy. ... congenital disorder (noun) - 1. a defect that is present[proz.com]
  • Clinical and socio-demographic characteristics at 10 and 18 years of age are presented in Table S1.[peerj.com]
  • Three specific (iso-) forms of nitric oxide synthase (NOS) are presently known: two are calcium- dependent constitutive forms (cNOS), at one of which is the endothelium shape (eNOS), and an inducible calcium-independent body (iNOS).[astakask.com]
  • Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients. [1] Patients suffering from Larsen syndrome normally present with[checkrare.com]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • Furthermore, it is one of the risk factors for developing squamous cell carcinoma of the oral cavity, esophagus, and hypopharynx. [5] History The disease is named after two Americans: the physician Henry Stanley Plummer and the surgeon Porter Paisley[checkrare.com]
Multiple Congenital Anomalies
  • Orpha Number: 3429 Disease definition Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal[rarediseases.info.nih.gov]
Heart Disease
  • disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus).[rarediseases.info.nih.gov]
  • disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia , small, low-set ears without external meatus).[rarediseases.info.nih.gov]
  • McElhinney DB, Geiger E, Blinder J et al (2003) NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 42:1650–1655 PubMed CrossRef Google Scholar 36.[link.springer.com]
Sparse Eyelashes
  • eyelashes Bicuspid aortic valve Sparse eyebrow Alopecia Eyelid coloboma Trismus Auricular pit Auricular tag Delayed eruption of primary teeth Mandibulofacial dysostosis Conductive hearing impairment Depressivity Polyhydramnios Cataract Macrocephaly Renal[mendelian.co]
  • eyelashes Abnormality of dental morphology Hyperostosis Long nose Basal ganglia calcification Spinal cord compression Vesicoureteral reflux Large earlobe Mild global developmental delay Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis[mendelian.co]
Sparse Eyebrows
  • eyebrow Alopecia Eyelid coloboma Trismus Auricular pit Auricular tag Delayed eruption of primary teeth Mandibulofacial dysostosis Conductive hearing impairment Depressivity Polyhydramnios Cataract Macrocephaly Renal agenesis Renal hypoplasia Oligohydramnios[mendelian.co]
Periorbital Fullness
  • fullness Generalized hirsutism Wide pubic symphysis Splenomegaly Pain Hepatomegaly Inguinal hernia Cognitive impairment Oxycephaly Prominent forehead Scoliosis Coarse facial features Malformed lacrimal duct Elevated hepatic transaminase Memory impairment[mendelian.co]
Low Set Ears
  • ears Low set ears Lowset ears [ more ] 0000369 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Microtia Small ears Underdeveloped ears [ more ] 0008551 Non-midline cleft lip 0100335 Tarsal synostosis Fused ankle bones 0008368[rarediseases.info.nih.gov]
  • set ears * Metacarpal anomalies * Tarsal fusion * Ectopic testes Causes - Verloove Vanhorick Brubakk syndrome Not supplied.[checkorphan.org]
Aggressive Behavior
  • behavior Persistence of primary teeth Deeply set eye Tetralogy of Fallot Stereotypy Drooling Precocious puberty Unilateral renal agenesis Gonadal dysgenesis Echolalia Neurodevelopmental delay Abnormality of brain morphology Severe expressive language[mendelian.co]
  • Two broadband scales were composed from five of the eight derived syndrome scales, the internalizing (withdrawn, somatic complaints, anxious/depressed) and externalizing (delinquent or rule-breaking, aggressive behavior).[peerj.com]
  • Co-occurring problems are clustered into the following Syndrome Profiles according to the manual: Anxious/Depressed, Withdrawn, Somatic Complaints (comprising the composite scale for Internalizing Problems), Aggressive Behavior, Rule-Breaking Behavior[link.springer.com]
Delusion
  • Delusions Inventory). Schizophrenia Bulletin 25, 553 – 576. Peterson, BS, Vohr, B, Staib, LH, Cannistraci, CJ, Dolberg, A, Schneider, KC, Katz, KH, Westerveld, M, Sparrow, S, Anderson, AW, Duncan, CC, Makuch, RW, Gore, JC, Ment, LR ( 2000 ).[cambridge.org]
Small Face
  • face Hand clenching Abnormality of the liver Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Hydrocephalus Visual loss Cloverleaf skull Deviation of the thumb Fever Diarrhea Vomiting Polyhydramnios[mendelian.co]
Round Face
  • Dental malocclusion Snoring Abnormal facial shape Smooth philtrum Growth delay Wide nasal bridge Arthrogryposis multiplex congenita Short stature Sloping forehead High palate Decreased fetal movement Facial asymmetry Posteriorly rotated ears Cupped ear Round[mendelian.co]
Delayed Speech and Language Development
  • speech and language development Midface retrusion Facial palsy High hypermetropia Delayed skeletal maturation Facial diplegia Nonprogressive High-frequency hearing impairment Esophoria Accommodative esotropia Arrhythmia Short neck Proptosis Uplifted[mendelian.co]
  • speech and language development Abnormality of the dentition Delayed skeletal maturation Narrow mouth Telecanthus Bifid uvula Single transverse palmar crease Delayed eruption of teeth Central apnea Short palm Aplasia/Hypoplasia of the thumb Bicoronal[mendelian.co]
Learning Difficulties
  • Learning difficulties and seizures may occur in childhood.[mendelian.co]
  • These are manifest in the relationship between immaturity and CP ( 12 ) and low intelligent quotient (IQ) ( 13, 14 )/learning difficulties ( 15 ), respectively.[nature.com]
Neglect
  • Child Abuse and Neglect 33, 307 – 311. Wright, P, Albarracin, D, Brown, RD, Li, H, He, G, Liu, Y ( 2008 ). Dissociated responses in the amygdala and orbitofrontal cortex to bottom-up and top-down components of emotional evaluation.[cambridge.org]
Memory Impairment
  • impairment Abdominal pain Thin upper lip vermilion Hepatosplenomegaly Developmental regression Attention deficit hyperactivity disorder Midline nasal groove Smooth philtrum Lacrimal duct aplasia Macroglossia Low posterior hairline High, narrow palate[mendelian.co]
Cryptorchidism
  • […] bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism[rarediseases.info.nih.gov]
  • ) HP:0008551 3 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175 4 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347 5 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312 6 cryptorchidism[malacards.org]

Treatment

  • Treatment - Verloove Vanhorick Brubakk syndrome Not supplied. Resources - Verloove Vanhorick Brubakk syndrome Not supplied.[checkorphan.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Prognosis - Verloove Vanhorick Brubakk syndrome Not supplied. Treatment - Verloove Vanhorick Brubakk syndrome Not supplied. Resources - Verloove Vanhorick Brubakk syndrome Not supplied.[checkorphan.org]
  • These symptoms are all associated with Larsen syndrome, so they can be used to confirm that a fetus has the disorder. [7] Prognosis While Larsen syndrome can be lethal if untreated, the prognosis is relatively good if individuals are treated with orthopedic[checkrare.com]
  • This may improve dysphagia and pain. [1] If not, the web can be dilated during upper endoscopy to allow normal swallowing and passage of food. [4] Prognosis Patients generally respond well to treatment.[checkrare.com]
  • Brothwood M, Wolke D, Gamsu H, Benson J, Cooper D 1986 Prognosis of the very low birthweight baby in relation to gender. Arch Dis Child 61 : 559–564 50.[nature.com]
  • Prognosis of psychomotor and mental development in premature infants by early cranial ultrasound. Ital J Pediatr. 2015;41:30. 88. Heibel M, Heber R, Bechinger D, Kornhuber HH.[etds.lib.ncku.edu.tw]

Etiology

  • In this article, we review clinical cohort studies of the prevalence, etiology, and risk factors for psychiatric sequelae in ex-preterm children.[nature.com]
  • Other congenital malformation syndromes and mutations in genes encoding NKX and GATA transcription factors have also been reported as its etiology.[link.springer.com]
  • Enlightenment the molecular factors that role in to cancer etiology and the mechanisms through which dissimilar individuals and populations are more stubborn to the cancer processes is fundamental to developing able mitigation procedures that goal mechanisms[sarcomacancer.org]
  • Although the etiology of MND is largely under debate, MND has attracted attention in clinical setting and research field for a long period of time and the threat to healthy issues is still getting more and more severe.[etds.lib.ncku.edu.tw]

Epidemiology

  • While exact data about the epidemiology is unknown, this syndrome has become extremely rare.[checkrare.com]
  • Epidemiologic studies provide evidence that preterm birth and LBW are important risk factors for ASD ( 7, 9, 10, 73 ).[nature.com]
  • American Journal of Epidemiology 165, 575 – 582. Anderson, P, Doyle, LW ( 2003 ). Victorian Infant Collaborative Study Group. Neurobehavioral outcomes of school-age children born extremely low birth weight or very preterm in the 1990s.[cambridge.org]
  • Epidemiology 1998 ;9: 662 - 665 14. Hack M, Breslau N, Weissman B, Aram D, Klein N, Borawski E. Effect of very low birth weight and subnormal head size on cognitive abilities at school age. N Engl J Med 1991 ;325: 231 - 237 15.[nejm.org]
  • Kringlen E, Torgersen S, Cramer V: A Norwegian psychiatric epidemiological study.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiological mechanisms involved in genesis and spread of muscular tension in occupational muscle pain and in chronic musculoskeletal pain syndromes: a hypothesis. Medical hypotheses 35, 196-203.[etds.lib.ncku.edu.tw]

Prevention

  • Prevention - Verloove Vanhorick Brubakk syndrome Not supplied.[checkorphan.org]
  • Prevention Good nutrition with adequate intake of iron may prevent this disorder. Good nutrition should also include balanced diet and exercise. Treatment Treatment is primarily aimed at correcting the iron-deficiency anemia .[checkrare.com]
  • Ethical standards are similar in that you should shall not share information that is obtained through the counseling process without specific written consent by the client or legal guardian except to prevent clear, and they work, skinny to muscular.[efbmx.com]
  • .) — both in Cleveland; and the Institute for the Study and Prevention of Violence, Kent State University, Kent, Ohio (D.J.F.). Address reprint requests to Dr.[nejm.org]
  • Consequently, psychiatric assessment should include a cognitive examination to facilitate prevention and treatment of mental health problems in this group.[link.springer.com]

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