Abnormalities, Multiple

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  Subject Areas on Research

  • A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. 
  • A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 
  • A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. 
  • A fetus with sirenomelia, omphalocele, and meningomyelocele, but normal kidneys. 
  • A lethal association of congenital apnea with brainstem tegmental necrosis. 
  • A newborn with congenital complete atrioventricular block, lissencephaly, and skeletal abnormalities: a case of suspected cytomegalovirus infection. 
  • A novel pattern of oculocerebral malformation. 
  • A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome. 
  • A patient with duplication (7)(p22.1pter) characterized by array-CGH. 
  • A role for sonic hedgehog signaling in the pathogenesis of human tracheoesophageal fistula. 
  • A unique case of unilateral synophthalmia. 
  • A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 
  • A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. 
  • Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome. 
  • Acardius anceps with evidence of intrauterine vascular occlusion: report of a case and discussion of the pathogenesis. 
  • An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 
  • An infant with subvalvar and valvar aortic stenosis, subvalvar and valvar pulmonary stenosis, severe biventricular hypertrophy and pulmonary hemorrhage. 
  • An inherited disorder with splenomegaly, cytopenias, and vision loss. 
  • An unusual cardiac defect in a patient with clinical features overlapping between cardiofaciocutaneous and Noonan syndromes. 
  • An unusual case of partial anomalous pulmonary venous drainage: utility of the cardiac MRI. 
  • Anesthetic management of a ventilator-dependent parturient with the King-Denborough syndrome. 
  • Anesthetic management of children with Moebius sequence. 
  • Anomalies associated with myelodysplasia. 
  • Antenatal sonographic features of Walker-Warburg syndrome. Value of endovaginal sonography. 
  • Antenatal ultrasonographic findings in the CHARGE association. 
  • Aphallia with congenital urethrorectal fistula. 
  • Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations. 
  • Axenfeld-Rieger syndrome. A spectrum of developmental disorders. 
  • Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. 
  • Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF). 
  • Brief clinical report and review: the Marden-Walker syndrome. 
  • Cerebellar vermian defects: antenatal sonographic appearance and clinical significance. 
  • Choanal atresia and associated anomalies. 
  • Choanal atresia in a patient with the deletion (9p) syndrome. 
  • Choroid plexus-ventricular wall separation in fetuses with normal-sized cerebral ventricles at sonography: postnatal outcome. 
  • Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. 
  • Chronic ear surgery in patients with syndromes and multiple congenital malformations. 
  • Complete DiGeorge syndrome associated with CHD7 mutation. 
  • Congenital diaphragmatic hernia: a systematic review and summary of best-evidence practice strategies. 
  • Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter. 
  • Constellation of congenital abnormalities in an infant: a new syndrome or tissue-specific mosaicism for trisomy 18? 
  • Corneal coloboma, aphakia and retinal neovascularization with anterior segment dysgenesis (Peters' anomaly). 
  • Cornelia de Lange syndrome in diverse populations. 
  • Definition of the inclusion criteria of Poland's syndrome. 
  • Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject. 
  • Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. 
  • Double Carina: A Novel Tracheo-Bronchial Anomaly Found During a Pediatric Airway Evaluation. 
  • Double aortic arch with aortic atresia and left-sided type B interruption. 
  • Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? 
  • Dwarfism, impaired skin development, skeletal muscle atrophy, delayed bone development, and impeded adipogenesis in mice lacking Akt1 and Akt2. 
  • Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome. 
  • Early developmental outcome in children with hypoplastic left heart syndrome and related anomalies: the single ventricle reconstruction trial. 
  • Enteric type adenocarcinoma of the upper tract urothelium associated with ectopic ureter and renal dysplasia: an oncological rationale for complete extirpation of this aberrant developmental anomaly. 
  • Epilepsy in KCNH1-related syndromes. 
  • Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 
  • Explainable multiple abnormality classification of chest CT volumes. 
  • Factors Associated with Early Neonatal and First-Year Mortality in Infants with Myelomeningocele in California from 2006 to 2011. 
  • Factors associated with high hospital resource use in a population-based study of children with orofacial clefts. 
  • Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. 
  • Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome. 
  • Fibroblast growth factor signaling in the developing tracheoesophageal fistula. 
  • Frequency of anomalies and hospital outcomes in infants with gastroschisis and omphalocele. 
  • Fryns syndrome survivors and neurologic outcome. 
  • Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 
  • Further clinical and molecular delineation of the 15q24 microdeletion syndrome. 
  • Gene abnormalities may lead to multiple system defects for heart patients. 
  • Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 
  • Genotype/phenotype correlations in two patients with 12q subtelomere deletions. 
  • Growth-Friendly Spine Surgery in Escobar Syndrome. 
  • Hemophagocytic lymphohistiocytosis in the premature neonate. 
  • Herpes simplex virus hepatitis after renal transplantation. 
  • High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. 
  • Human neutrophil dysfunction with giant granules and defective activation of the respiratory burst. 
  • Hypereosinophilic syndrome and hemimelia in a patient with chromosome 6p22.3 deletion. 
  • Hypoplastic right lung with systemic blood supply and anomalous pulmonary venous drainage: reversal of pulmonary hypertension with surgical management in infancy. 
  • Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome. 
  • Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. 
  • Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism. 
  • Intraoperative prebypass and postbypass epicardial color flow imaging in the repair of atrioventricular septal defects. 
  • Investigation of NRXN1 deletions: clinical and molecular characterization. 
  • Iridogoniodysgenesis with cataract. 
  • Isolated innominate artery in asplenia syndrome with aortic atresia: newly recognized cardiovascular complex. 
  • LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. 
  • Lethal multiple pterygium syndrome: antenatal ultrasonographic diagnosis. 
  • Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma. 
  • Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18. 
  • Management of 239 patients with hypoplastic left heart syndrome and related malformations from 1993 to 2007. 
  • Management strategies for Mayer-Rokitansky-Kuster-Hauser related vaginal agenesis: a cost-effectiveness analysis. 
  • Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. 
  • Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. 
  • Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. 
  • Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis. 
  • Mullerian dysgenesis: a critical review of the literature. 
  • Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. 
  • Multiple ciliary localization signals control INPP5E ciliary targeting. 
  • Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq). 
  • Multiple congenital septal atresias of the intestine: histomorphologic and pathogenetic implications. 
  • Murine forkhead/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract. 
  • Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. 
  • Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. 
  • Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 
  • Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. 
  • Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. 
  • Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. 
  • Nager acrofacial dysostosis. 
  • Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus. 
  • Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. 
  • New findings in the chromosome 13 long-arm deletion syndrome and retinoblastoma. 
  • Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome. 
  • OCULAR MANIFESTATIONS OF PORETTI-BOLTSHAUSER SYNDROME: FINDINGS FROM MULTIMODAL IMAGING AND ELECTROPHYSIOLOGY. 
  • Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. 
  • Omphalocele: clinical outcomes in cases with normal karyotypes. 
  • Outcomes of repair of common arterial trunk with truncal valve surgery: a review of the society of thoracic surgeons congenital heart surgery database. 
  • Pallister-Hall syndrome associated with an unbalanced chromosome translocation. 
  • Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient. 
  • Partial anomalous pulmonary venous return to azygos vein with absent segmental bronchus. 
  • Pelger-Huet anomaly in an infant with multiple congenital anomalies. 
  • Pena-Shokeir type I syndrome: in utero sonographic appearance. 
  • Pentalogy of Cantrell with ectopia cordis totalis, total anomalous pulmonary venous connection, and tetralogy of Fallot: a case report and review of the literature. 
  • Perinatal factors, parenting behavior, and reactive aggression: does cortisol reactivity mediate this developmental risk process? 
  • Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. 
  • Posterior axial corneal malformation and uveoretinal angiodysgenesis--a neurocristopathy? 
  • Prenatal diagnosis of tetrasomy 9p. 
  • Prenatal genetic diagnosis of Neu-Laxova syndrome. 
  • Prenatal sonographic detection of giant parietal foramina. 
  • Prevalence of Renal and Cervical Vertebral Anomalies in Patients With Isolated Microtia and/or Aural Atresia. 
  • Pulmonary atresia and ventricular septal defect with aortopulmonary collaterals in an adult dog. 
  • Pulmonary hypertension associated with portal hypertension in a child with Williams syndrome--a case report. 
  • Pulmonary hypoplasia. 
  • Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays. 
  • Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation. 
  • Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. 
  • Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. 
  • Ring chromosome 17: phenotype variation by deletion size. 
  • SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. 
  • Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association. 
  • Sirenomelia with an angiomatous lumbosacral myelocystocele in a full-term infant. 
  • Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. 
  • Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. 
  • The Association of Accessory Auricular Tissue With Solid Organ Abnormalities and Its Effect on Auditory and Vestibular Function. 
  • The cardiofaciocutaneous syndrome. 
  • The combined functions of proapoptotic Bcl-2 family members bak and bax are essential for normal development of multiple tissues. 
  • The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. 
  • The eyes have it: Waardenburg's syndrome. 
  • The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. 
  • Third ventricle: size and appearance in normal fetuses through gestation. 
  • Thrombocytopenia and absent radii (TAR) syndrome associated with horseshoe kidney. 
  • Tissue-specific inactivation of murine M6P/IGF2R. 
  • Townes-Brocks syndrome in two mentally retarded youngsters. 
  • Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. 
  • Transplantation of thymus tissue in complete DiGeorge syndrome. 
  • Triploid mosaicism in a 45,X/69,XXY infant. 
  • Two Cases of Late Shone Syndrome With Pulmonary Hypertension: Heart-Lung Transplant or Valve Surgery? 
  • Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype. 
  • Ultrastructural study of Norrie's disease. 
  • Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma. 
  • Urorectal septum malformation sequence. 
  • Use of vascularized posterior rectus sheath allograft in pediatric multivisceral transplantation--report of two cases. 
  • VATER and hydrocephalus: distinct syndrome? 
  • [A case of direct right pulmonary artery-left atrium fistula]. 
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  Keywords of People

  • Barker, Piers Christopher Andrew, Professor of Pediatrics, Pediatrics, Cardiology
  • Bradford, William Dalton, Professor of Pathology, Pathology
  • Hogan, Brigid L. M., Research Professor of Cell Biology, Cell Biology
  • Milazzo Jr., Angelo Stephen, Professor of Pediatrics, Pediatrics
  • Routh, Jonathan Charles, Paul H. Sherman, M.D. Distinguished Associate Professor of Surgery, Pediatrics