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Skeletal Dysplasia - Epilepsy - Short Stature Syndrome

Gurrieri-Sammito-Bellussi Syndrome


Presentation

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • Many of these conditions have specific implications for the presenting phenotype and for treatment, management, and intervention.[books.google.de]
  • Oral features occurred in 53 (98%) cases; macrodontia was present in 49 (96%) cases."[kbgfoundation.com]
  • […] malnutrition states Abnormal neurology may be present with CNS tumors.[online.epocrates.com]
Epilepsy
  • […] in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy, Nat.[books.google.com]
  • Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile[se-atlas.de]
  • Pycnodysostosis with epilepsy is rare and has been reported as a syndrome known as Gurrieri syndrome. This is characterized by a combination of epilepsy, short stature and skeletal abnormalities 11,12,13 .[bioline.org.br]
  • Published on: 19 September 2017 A drug used to treat conditions such as epilepsy has been shown in lab tests to significantly improve bone growth impaired by a form of dwarfism.[ncl.ac.uk]
  • Mental retardation, epilepsy, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome . Am J Med Genet. 1996 Mar 29;62(3):230-2. Gurrieri F, Sammito V, Bellussi A, Neri G.[disorders.eyes.arizona.edu]
Anemia
  • New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference[books.google.com]
  • Anemia is a rule in long-standing osteopetrosis but very rarely presents with Pycnodysostosis 1,7 .[bioline.org.br]
  • 1 2 Diamond-Blackfan Anemia 10 2 Diamond-Blackfan Anemia 11 2 Diamond-Blackfan Anemia 12 2 Diamond-Blackfan Anemia 3 2 Diamond-Blackfan Anemia 4 2 Diamond-Blackfan Anemia 5 2 Diamond-Blackfan Anemia 6 2 Diamond-Blackfan Anemia 7 2 Diamond-Blackfan Anemia[preventiongenetics.com]
  • Dyslexia Research Society International Dyslexia Association Edwards Syndrome Ehlers-Danlos Syndrome Empty Sella Epilepsy Foundation Epstein-Barr Syndrome Failure to Thrive Fairbank Disease - Multiple Epiphyseal Dysplasia Familial Dysautonomia Fanconi Anemia[magicfoundation.org]
  • Tachycardia may indicate cardiac failure; bradycardia may suggest eating disorders or severe hypothyroidism Tachypnea may be observed in respiratory disorders such as cystic fibrosis, or other chronic cardiac and pulmonary diseases Pallor may indicate anemia[online.epocrates.com]
Malnutrition
  • Pathological conditions resulting in short stature include malnutrition or malabsorption, chronic diseases, skeletal or bone diseases, and endocrinopathies.[learn.pediatrics.ubc.ca]
  • Systemic examination: A murmur suggests congenital heart disease, isolated or associated with genetic syndromes Signs of pneumonia may be present in cystic fibrosis and other respiratory conditions Abdominal distension suggests celiac disease and other malnutrition[online.epocrates.com]
  • Diagnosis confirmation The diagnosis of severe primary IGF-I deficiency is made by meeting the above FDA criteria along with having normal or elevated serum GH levels; excluding secondary causes of IGF-I deficiency (including GHD, malnutrition, hypothyroidism[endocrinologyadvisor.com]
  • Secondary short stature refers to conditions that change growth plate physiology (30–35% of cases) [ 8 ], such as endocrine disorders, chronic disorders in different organ and systems, insufficient nutrient intake (malnutrition) and metabolic or psychosocial[intechopen.com]
Atrial Septal Defect
  • Septal Defect 2 1 Atrial Septal Defect 3 5 Atrial Septal Defect 5 5 Atrial Septal Defect With Atrioventricular Conduction Defects 5 Atrioventricular Septal Defect 2 1 Atrioventricular Septal Defect 4 1 Autism 10 1 Autism 15 1 Autism 17 1 Autism Susceptibility[preventiongenetics.com]
  • septal defect ‐Chondroectodermal dysplasia Patent ductus arteriosus ‐Lethal short‐limbed skeletal dysplasias Mental retardation ‐Genetic syndromes—Rubinstein‐Taybi syndrome ‐Cranium pathology—craniostenosis ‐Metabolic disorders—lysosomal storage diseases[intechopen.com]
Pathologist
  • All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.[books.google.com]
Failure to Thrive
  • Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.com]
  • Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity[aafp.org]
  • […] to Thrive Fairbank Disease - Multiple Epiphyseal Dysplasia Familial Dysautonomia Fanconi Anemia Fetal Alcohol Syndrome and Support Fetal Anti-Convulsant Syndrome Fetal Veapkote Syndrome / Fetal Balproate Acid Syndrome Froelich's Syndrome Gerneralized[magicfoundation.org]
  • Other symptoms include nasal polyps, delayed puberty, and failure to thrive. Patient may have diabetes with symptoms of polyuria, polydipsia, and weight loss.[online.epocrates.com]
  • March 2004 The typical signs and symptoms of congenital disorders of glycosylation (CDG) include dysmorphy, failure to thrive, and neurologic abnormalities.[apcdg.com]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]
  • […] resonance imaging of the brain) Ocular Dysmorphic findings, vision problems Detailed eye examination in infancy and/or at diagnosis — Eye reevaluation as indicated if abnormal or every two years thereafter Pregnancy Congenital heart defects, effusion, hydrops[aafp.org]
Suggestibility
  • Access full-color images and 65 online-only topics at Expert Consult, as well as online-only contents including EBMs, Suggested Reading, Patient Teaching Guides, and additional algorithms.[books.google.com]
  • Perinatal complications, such as hypoglycemia or micropenis, are suggestive of growth hormone (GH) deficiency. Medical history Dyspnea may suggest a cardiac or pulmonary cause, such as moderate/severe asthma, or chronic heart disease.[online.epocrates.com]
  • The older sibling, a male had seizures soon after birth and had MRI findings suggestive of a temporal lobe abnormality. EEG findings of both children found a focus for the seizures in the temporal lobe.[ashg.org]
  • Short stature, obesity, skeletal abnormalities, and school difficulties suggest this diagnosis.[endocrinologyadvisor.com]
  • There are no data presented to suggest that the process of growth failure is likely to be disabling.[archive.ahrq.gov]
Aggressive Behavior
  • ., Aggressive behavior and altered amounts of brain serotonin and ‏ الصفحة 468 - Tsien, JZ, Chen, D.[books.google.com]
  • behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity[se-atlas.de]
Headache
  • There may be a history of headache or diplopia, suggestive of a craniopharyngioma with other pituitary hormone dysfunction, or there may be a history of recent brain surgery.[online.epocrates.com]
  • Incidence of Ponticulus Posterior of the Atlas in Migraine and Cervicogenic Headache. J Manipulative Physiol Ther, 1999;22(1):15--20 (21) Woodword M., Cook J., Gargan, M., Bannister G.: Chiropractic treatment of Chronic Whiplash Injuries.[cervicalone.com]
  • […] with lymphedema to lymphedema clinic (contact National Lymphedema Network; ) Metabolic Failure to thrive Inadequate weight gain Referral as indicated Dietary assessment and nutrition intervention Neurologic Arnold-Chiari malformation, craniosynostosis, headaches[aafp.org]
  • Rare choreic movement disorder Rare developmental defect during embryogenesis Rare disease with autism Rare disorder with dystonia and other neurologic or systemic manifestation Rare dystonia Rare genetic dystonia Rare genetic epilepsy Rare genetic headache[se-atlas.de]
Neglect
  • Social history should ascertain family dynamics and raise any suspicion of neglect, abuse, or starvation. Parent-child bonding and interaction should be observed. Dietary history Adequate caloric intake and access to food should be ensured.[online.epocrates.com]
  • […] alcohol, nicotine, recreational drugs), medications Birth related causes of growth delay: Causes include birth asphyxia, birth trauma, hypoglycemia, prolonged neonatal jaundice, panhypopituitarism Postnatal causes of growth delay: Causes include child neglect[learn.pediatrics.ubc.ca]
Tremulousness
  • […] conditions Angelman Syndrome Developmental delay, functionally severe; speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher than verbal ones; Movement or balance disorder, usually ataxia of gait and/or tremulous[apraxia-kids.org]
Poor Coordination
  • Asymmetry, sensory deficits, poor coordination, and seizures were found in frequencies higher than controls or than are expected in the healthy population.[archive.ahrq.gov]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • Many of these conditions have specific implications for the presenting phenotype and for treatment, management, and intervention.[books.google.de]
  • Your child’s doctor may work with a team of specialists to develop and deliver a treatment plan.[healthline.com]

Prognosis

  • A whole-body x-ray of every affected neonate, even if stillborn, should be taken because diagnostic precision is essential for predicting prognosis.[msdmanuals.com]
  • Molecular analysis is likely to expand the clinical spectrum of skeletal dysplasia and may also provide data relevant to prognosis and future therapeutic intervention.[eurofinsclinicalgenetics.co.in]
  • Trials of growth hormone have been effective to treat short stature in this disorder. [7] Prognosis [ edit ] Some people may have some mental slowness, but children with this condition often have good social skills.[en.wikipedia.org]
  • Prognosis in MVP syndrome is better than for MVP in Marfan syndrome, with significantly lower risk for mitral regurgitation.[nature.com]
  • BONE INVOLVEMENT November 2015 Case report two affected siblings presenting prenatally with skeletal abnormalities associated with dysmorphic features, cerebellar vermis hypoplasia, corpus callosum agenesis, hepatic fibrosis and poor prognosis.[apcdg.com]

Etiology

  • Laboratory evaluation Choice of tests should be based on the potential etiologies after a careful history and physical examination.[online.epocrates.com]
  • “Congenital hypothyroidism: etiologies, diagnosis, and management”. Thyroid. vol. 9. 1999. pp. 735-40. (Review of congenital hypothyroidism.) Fava, A, Oliverio, R, Giuliano, S.[endocrinologyadvisor.com]
  • Their diagnosis is often difficult, thus, knowledge of the main clinical signs of each syndrome and the algorithm for clinical diagnosis and genetic testing will practically lead to an easier clinical and etiologic diagnosis.[intechopen.com]
  • However, most AAAs are of multifactorial etiology. 9 Arterial tortuosity syndrome Arterial tortuosity syndrome is distinguished from forms of EDS by the generalized tortuosity of the arterial bed.[nature.com]
  • […] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology[se-atlas.de]

Epidemiology

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • […] shows that the notion of a single condition known as 'autism' is no longer tenable, and challenges current trends in the diagnosis and management of these behaviours as a homogenous group by drawing on recent research into brain function, genetics, epidemiology[books.google.de]
  • Age-appropriate guidelines for the management of Noonan syndrome are available. 1 Epidemiology Noonan syndrome is characterized by marked variable expressivity, which makes it difficult to identify mildly affected individuals.[aafp.org]
Sex distribution
Age distribution

Pathophysiology

  • The cause of Aarskog-Scott syndrome in other affected individuals is unknown. [3] Pathophysiology [ edit ] The Aarskog–Scott syndrome is due to mutation in the FGD1 gene.[en.wikipedia.org]
  • Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications . Circulation 2009; 119 : 880–890. 17. Janssens K , Vanhoenacker F , Bonduelle M , et al.[nature.com]

Prevention

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • These mutations can prevent your child’s bones from growing normally. While skeletal dysplasia runs in families, you can potentially pass the condition to your child even if you don’t have a known family history of it.[healthline.com]
  • Medical care for individuals with skeletal dysplasia should be directed at preventing neurologic and orthopedic complications due to spinal cord compression, joint instability, and long bone deformity.[emedicine.medscape.com]

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