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778 Possible Causes for Congenital Heart Disease, Hypertelorism, Rarely Malignant

  • Neurofibromatosis Type 1

    Plexiform neurofibromas- tumors along nerve bundle tracts, can be large and usually appear at birth or early in childhood (occur in 25%) Malignant peripheral nerve sheath[en.wikibooks.org] heart disease (pulmonary stenosis and hypertension) are associated with NF.[patient.info] NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.[genome.ucsc.edu]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov] The challenges faced during anesthetic management of patients with NS could be due to congenital heart diseases, hemostatic disorders, and airway anomalies.[ncbi.nlm.nih.gov]

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[ncbi.nlm.nih.gov] […] encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism[ncbi.nlm.nih.gov] KEYWORDS: Turner syndrome; congenital heart disease; outcomes; trisomy 21[ncbi.nlm.nih.gov]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[ncbi.nlm.nih.gov] heart disease and Down syndrome.[ncbi.nlm.nih.gov] BACKGROUND: The pattern and risk factors for congenital heart diseases (CHD) in children with Down syndrome (DS) vary over time.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice.[ncbi.nlm.nih.gov] […] genetic disease characterized by mutations in the NAGLU gene, deficiency of α-N-acetylglucosaminidase, multiple congenital malformations and an increased susceptibility to malignancy[ncbi.nlm.nih.gov]

  • Mowat-Wilson Syndrome

    Cases of malignant hyperthermia without administration of triggering anesthetic agent have been described: it seems that these rare cases combine a mutation of the RyR1 gene[sites.uclouvain.be] […] congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism[ncbi.nlm.nih.gov] Patient 2 suffered from typical HSCR and underwent surgical treatment, but did not have congenital heart disease.[ncbi.nlm.nih.gov]

  • Fraser Syndrome

    , as well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring.[jasn.asnjournals.org] Findings on sonography included oligohydramnios with nonvisualization of kidneys, hypertelorism and microphthalmia, and markedly enlarged lungs.[ncbi.nlm.nih.gov] Cognitive deficits and congenital heart disease are common. Genetics Fraser syndrome 1 is caused by homozygous or heterozygous mutations in the FRAS1 gene (4q21.21).[disorders.eyes.arizona.edu]

  • Cutis Laxa

    Acquired cutis laxa is a rare cutaneous manifestation of hematologic malignancy, particularly plasma cell dyscrasias, including multiple myeloma, monoclonal gammopathy of[emedicine.medscape.com] Our case had markedly loose and wrinkled skin especially over the dorsum of the hands and feet, and on the face and abdomen, dolichocephaly, hypertelorism, blepharochalasis[healthceo.blogspot.com] heart disease NGS panel CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TAB2, TBX1, TBX20, TBX5, ZIC3 Del Dup NGS Connective tissue disorder NGS[ctgt.net]

  • Trisomy 18

    Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant[ncbi.nlm.nih.gov] A prenatal diagnosis of ductal-dependent, complex congenital heart disease was made in a fetus with trisomy 18.[ncbi.nlm.nih.gov] At 19 weeks' gestation a follow-up scan revealed, apart from the resolution of septated cystic hygroma, hypertelorism, a large interventricular septum defect with an atrio-ventricular[ncbi.nlm.nih.gov]

  • Aarskog-Scott Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org] We therefore propose that all patients with Aarskog syndrome be screened for congenital heart disease.[icvts.oxfordjournals.org]

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