Conclusion We present neuroimaging abnormalities associated with San Luis Valley syndrome. [hindawi.com]

presented by Hannachi et al, at the 4th Congress of the European Academy of Paediatric Societies 2012, abstract in Arch Dis Child 2012;97(Suppl 2): A213; ∥Case presented by Tos et al, at the Meeting of The European Society of Human Genetics 2015; ¶Case [synapse.koreamed.org]

All cases presented with different degrees of growth retardation and development delay, even the prenatal case, our case 1 presented early onset intrauterine growth retardation. [molecularcytogenetics.biomedcentral.com]

Anesthetic considerations Techniques should be tailored to the cardiac defect present and the procedure planned. Measures to prevent air embolism must be taken. Adequate intravascular hydration must be ensured. [accessanesthesiology.mhmedical.com]

• Pallor

  These include strabismus, nystagmus, refractory errors, optic nerve pallor, enlarged optic disks, and retinal changes. The intracranial arterial flow voids were mildly tortuous and ectatic in our patient. [hindawi.com]

• Constipation

  Proband 3 had frequent ear infections, asthma, strabismus, chronic constipation, and sleep disturbance. He was admitted to the Child Psychiatric Unit for aggressive behaviour and psychotic-like symptoms. [jmg.bmj.com]

• Hearing Impairment

  impairment, Hydronephrosis, Cognitive impairment, Postnatal growth retardation, Global developmental delay, Scoliosis, Strabismus, Thick lower lip vermilion, Thin upper lip vermilion, Midface retrusion, Infra-orbital crease, Camptodactyly of finger, [fdna.health]

  impairment 31 frequent (33%) HP:0000365 16 depressed nasal bridge 31 frequent (33%) HP:0005280 17 gingival overgrowth 31 frequent (33%) HP:0000212 18 chronic otitis media 31 frequent (33%) HP:0000389 19 thick vermilion border 31 frequent (33%) HP:0012471 [malacards.org]

  Hearing impairment MedGen UID: 235586 •Concept ID: C1384666 • Disease or Syndrome A decreased magnitude of the sensory perception of sound. [ncbi.nlm.nih.gov]

  impairment Deafness Hearing defect [ more ] 0000365 Low-set ears Low set ears Lowset ears [ more ] 0000369 Patellar aplasia Absent kneecap 0006443 Patent ductus arteriosus 0001643 Pectus excavatum Funnel chest 0000767 Pulmonary artery stenosis Narrowing [rarediseases.info.nih.gov]

  Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features : review of literature. BMC Med Genet. 2014;15:1–7. Article Google Scholar Beaujard MP, Jouannic JM, Bessières B, et al. [molecularcytogenetics.biomedcentral.com]

• Wide Face

  Affected individuals typically have impaired intellectual development, congenital heart defects, seizures, a characteristic facial appearance with hypertelorism, thin upper lip, anteverted nares, wide face, and abnormal hair whorl, and other manifestations [malacards.org]

  Clinical aspects Features involve head (brachycephaly, wide face, midface hypoplasia, infraorbital creases, hypertelorism, anteverted nares, thin upper lip, thick lower lip, downturn mouth, gingival hyperplasia, micrognathia, strabismus, nystagmus, low-set [accessanesthesiology.mhmedical.com]

  Increased breadth of face Increased width of face Wide face [ more ] 0000283 Camptodactyly Permanent flexion of the finger or toe 0012385 Cerebral atrophy Degeneration of cerebrum 0002059 Delayed CNS myelination 0002188 Double outlet right ventricle [rarediseases.info.nih.gov]

• Downturned Corners of the Mouth

  corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Global developmental delay 0001263 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental [rarediseases.info.nih.gov]

• Global Developmental Delay

  developmental delay, Scoliosis, Strabismus, Thick lower lip vermilion, Thin upper lip vermilion, Midface retrusion, Infra-orbital crease, Camptodactyly of finger, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Camptodactyly, Large [fdna.health]

  developmental delay 31 hallmark (90%) HP:0001263 4 hypertelorism 31 hallmark (90%) HP:0000316 5 abnormality of the dentition 31 hallmark (90%) HP:0000164 6 anteverted nares 31 hallmark (90%) HP:0000463 7 cryptorchidism 31 hallmark (90%) HP:0000028 8 [malacards.org]

  Symptoms include: Global Developmental Delays Intellectual disabilities Seizures (epilepsy) Autism Apraxia (difficulty performing and coordinating specific movements including oral motor for feeding and communication for speech) Sensory processing disorder [project8p.org]

  Global developmental delay MedGen UID: 107838 •Concept ID: C0557874 • Finding A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social [ncbi.nlm.nih.gov]

  developmental delay 0001263 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Large face Big face 0100729 Low [rarediseases.info.nih.gov]

Current evidence for treatment with nusinersen for spinal muscular atrophy: a systematic review. Acta Neurol Belg. 2019;119(4):523-33. DOI: 10.1007/s13760-019-01199-z [ Links ] 39. [scielo.org.pe]

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]

Collectively, these findings were most likely related to complications of congenital heart disease and treatment. It is unclear to what extent the underlying genetic defect may have predisposed or contributed to these changes. [hindawi.com]

However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. [ncbi.nlm.nih.gov]

Given the grave outcome of such cardiac defects, treatment was withheld and the proband was placed in hospice care and died a few days later. A karyotype showed 8p23.1 duplication. Chromosome analyses were not performed on the parents of this child. [jmg.bmj.com]

Importantly, our patients may provide relevant information for genetic counselling concerning the natural history and prognosis for patients with this duplication. [jmg.bmj.com]

Etiology Am J Med Genet 1993 Sep 15;47(4):512-25. doi: 10.1002/ajmg.1320470415. PMID: 8256815 Izquierdo LA, McConnell TS, Curet LB, Sarto GE Am J Obstet Gynecol 1991 Nov;165(5 Pt 1):1419-22. doi: 10.1016/0002-9378(91)90382-2. [ncbi.nlm.nih.gov]

Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. Biochem Genet. 2018; 56(1-2):7-21. DOI: 10.1007/s10528-017-9825-6 [ Links ] 51. Blackburn PR, Gass JM, Vairo FP e, Farnham KM, Atwal HK, Macklin S, et al. [scielo.org.pe]

Program, Ottawa Hospital Research Institute, Ottawa, Canada Yi Wu & Shi Wu Wen School of Epidemiology & Public Health, Faculty of Medicine, University of Ottawa, Ottawa, Canada Shi Wu Wen Department of Reproductive Genetics, International Peace Maternity [molecularcytogenetics.biomedcentral.com]

Pathophysiology Recombinant 8 genotype has a duplication of 8q22.1-qter and deletion of 8pter-p23.1. [accessanesthesiology.mhmedical.com]

Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015;66:471-86. DOI: 10.1146/annurev-med-122313-085916 [ Links ] 64. Hagin D, Burroughs L, Torgerson TR. [scielo.org.pe]

Measures to prevent air embolism must be taken. Adequate intravascular hydration must be ensured. The presence of macroglossia and micrognathia may contribute to difficult laryngoscopy and tracheal intubation. [accessanesthesiology.mhmedical.com]

CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. [ncbi.nlm.nih.gov]