A Aarskog–Scott Syndrome, 1876 Abbie's Syndrome, 2266 Abdomen

Total Page:16

File Type:pdf, Size:1020Kb

A Aarskog–Scott Syndrome, 1876 Abbie's Syndrome, 2266 Abdomen Index A ABO immune disease, 1159–1160 Aarskog–Scott syndrome, 1876 ABO blood group heterospecificity, 1159 Abbie’s syndrome, 2266 ABO incompatibility, 1160 Abdomen carboxyhemoglobin, 1159 circumference, 151 clinical manifestations of, 1160 distension, 884 DAT-positive newborns, 1160 endocrine diseases, 1857, 1866 IVIG therapy, 1160 gastroenteritis, 1360 UGT1A1 gene, 1160 gastrointestinal malformations, 1296, 1307, 1310, Abortion 1311, 1318 ethical problems, 88 hemorrhage, 1505 genetic causes, 52 neonatal infection, 1740 hemolytic conditions, 1157 neonatal malignancies, 1656 prenatal hemorrhage, 1500–1504 pneumoperitoneum, 884 smoke, 711–712 renal diseases, 1964, 1970 spontaneous, 132 surgical emergencies, 1335 Abruptio placentae, 711, 1116 ventilation techniques, 986, 990 Abscess examination, 465 bacterial and fungal infections imaging studies bone, 1747 defects of the abdominal wall, 1298–1301 cerebral, 1730, 1731, 1741, 1752 duct, 1312 renal, 1745 duodenal obstructions, 1304 skin, 1751 duplication of the alimentary tract, 1316 liver, 1248 esophageal atresia, 1285, 1286 Absolute neutrophil count (ANC), 870, 1550, 1551, 1562 Hirschsprung’s disease, 1347 Absorption, 515–521, 698 intestinal malrotation, 1319 fat, 515–517 intestinal obstructions, 1305–1311 glucose, 518 meconium plug syndrome, 1341 micronutrient, 519–521 necrotizing enterocolitis, 1383 protein, 517–518 persistence of the omphalo-mesenteric duct, 1312 Absorptive enterocytes, 506 pylorus, 1301 Acardia, 141–142 palpation, 459 ACA stroke, 2265 Abdominal Acceleration mass, 748 of fetal heart rate, 113, 121 paracentesis, 927 of fetal maturity, 839–840 ultrasound, 1227 Accessory tragus, 2423 wall, defects, 1296–1301 Accidental extubation, 862 cloacal exstrophy, 54 ACE inhibitors, 1122 exomphalos, 60 Acetyl-choline, 510 gastroschisis, 1298–1301 Acholic stools, 1225 omphaloceles, 1297–1298 Achondroplasia, 67–68 Abnormal diffusion, 770 Acid–base Abnormal intrapleural tissue (AIPT), 930 measurement, 413–414 Abnormally placed pulmonary tissue (APPT), 930 status, 768 # Springer International Publishing AG, part of Springer Nature 2018 2459 G. Buonocore et al. (eds.), Neonatology, https://doi.org/10.1007/978-3-319-29489-6 2460 Index Acidemia, 120 furosemide, 1946 fetal, 14, 120 human studies, 1950 intrapartum asphyxia markers, 411–412 hyperkalemia, 1947 propionic and methylmalonic, 1817 hyperphosphatemia, 1947 Acidosis, 1187 hypertension, 1947 and asphyxia (see Acidemia) hypocalcemia, 1947 and brain damage, 2174, 2179, 2207, 2302 hyponatremia, 1946–1947 and calcium disturbances, 653–662 hypoxemic-hypoxic insults, 1941–1942 and fetal distress, 106 imaging, 1945 and heart disease, 1053–1063, 1065–1076 intrinsic causes, 1940 management during pregnancy, 115, 124 low-dose dopamine, 1945–1946 metabolic, 206, 413, 663 mannitol, 1946 and NEC, 1373–1387 neonatal kidney, 1937–1938 renal tubular, 1929, 1930, 1949 nephrotoxic drugs, 1940–1941 respiratory, 411, 768 non-oliguric ARF, 1943 and respiratory distress syndrome, nutrition, 1948 980–983 oliguric ARF, 1943 and surfactant therapy, 997 outcomes, 1949 weaning from ventilation, 984 physical features, 1942–1943 Acinar development, 889 plasma creatinine, 1943–1944 Acne, 2399 plasma cystatin C, 1944 Acquired coagulation disorders plasma urea, 1943 HIE and TH, 1449 postrenal causes, 1940 IVH, 1449 prerenal causes, 1939 liver dysfunction and liver failure, 1445 RRT, 1948–1949 VKDB, 1446 sepsis, 1942, 1948 Acquired immune deficiency syndrome septic shock, 1781 (AIDS), 1685 urinalysis, 1943 Acrocyanosis, 475, 1042, 2395–2396 urinary indices, 1944 Acrodermatitis, zinc deficiency, 671 respiratory distress syndrome (ARDS), 1003, 1781 Acrofacial dysostosis Nager type, see Nager syndrome and subacute non-structural cardiac ACTH (adrenocorticotropic hormone), see Hormones abnormalities, 721 Activated partial thromboplastin time (aPTT), 1438 Adamkiewicz artery, 2269 disseminated intravascular ADAMTS-13, 1458 coagulation (DIC), 1478–1479 Adaptation Activated protein C (aPC), 35, 1779 cardio-respiratory, 23 Active and passive cooling, 299 fetus, 20, 116, 119, 122 Active failures, 309 gastrointestinal tract, 518, 543 Activin A, 2307, 2308 preterm infant, 22–23 Acute Adaptive immunity, 1576, 1583, 1590, 1794 bilirubin encephalopathy (ABE), 1155, 1200 Addressins, 1577 chorioamnionitis, 2235 Adenosine, deaminase deficiency, 1612 fatty liver of pregnancy, 1815 Adenosine triphosphate (ATP), 1163, 1497 heart failure, 1101–1102 Adenovirus, 869 lymphoblastic leukemia (ALL), 1656 pneumonia, 1741–1743 myeloid leukemia (see Leukemia) SCIDs, 1612–1614 non-lymphoblastic leukemia (ANLL), 1656–1657 thrombocytopenia, 1478 otitis media (AOM), 1748 Adrenal crisis, 1845 pain scale, 369 Adrenal gland renal failure (ARF), 1781, 1935–1952 congenital adrenal hyperplasia, 473, 1120 acidosis, 1947 disorder of gonadal development, 1837–1839 animal studies, 1950 3b-hydroxysteroid dehydrogenase, 1900–1902, 1906 blood count, 1943 11-hydroxylase, 1900–1902 convulsions, 1947 Adrenal hemorrhage, 1116, 1120 definition, 1938 Adrenal hypoplasia congenita, 1842 early diagnosis, 1949–1950 Adrenal insufficiency, 1837–1845 fetal kidney, 1937 clinical presentation, 1844 fluid challenge and rehydration, 1945 diagnostic evaluation, 1844–1845 fluid management, 1946 etiology, 1840–1844 Index 2461 molecular basis, 1839–1840 Alanine aminotransferase (ALT), 1227, 1691, 1821 treatment, 1845 Albinism, 2415 Adrenoleucodistrophy, 473 Albright’s hereditary osteodystrophy (AHO), 1859 Adverse drug reactions, 704 Albumin, 387, 434, 518, 524, 559, 654, 753, 816 Aeromonas hydrophila, 1359 exchange, 1200 Aflibercept, 2373–2374 Alcohol Agammaglobulinemia, 1532, 1609–1610 fetal alcohol syndrome, 2138 Agammaglobulinemia either X linked (XLA) See also Maternal, drug abuse and bacterial infections, 1609 Alexander disease, 1827 characteristics, 1609 Alexis wound retractor (AWR) device, 1300 diagnosis, 1609–1610 Alimentary tract duplications, 1314–1317 genetic defects, 1609 A-lines, 914 symptoms, 1609 Alkaline phosphatase (ALP), 660, 1215, 1227, 1857 treatment, 1610 Alkalosis, 520, 610, 644 Agenesis of corpus callosum (ACC), see Corpus hypocalcemic, 654, 657 callosum agenesis metabolic, 658, 768 Age-specific nomogram, 1148 respiratory, 768, 948 AGREE evaluation tool, 319 Alloantibodies, 1476 Agyria, 2115, 2132, 2329 Allogeneic hematopoietic stem cell (HSC) Aicardi–Goutieres syndrome (AR), 2235, 2276 transplantation, 1845 Aicardi syndrome, 2122 Alloimmune AIDS, 752, 1674, 1684–1689, 1844 neonatal neutropenia, 1565 See also Human immunodeficiency virus neutropenia, 1542, 1565 Air thrombocytopenia, 1477 embolism, 1135 Alloimmunization, 1161 leak, 874, 996 Allopurinol, 904, 2156–2157 and MAS, 794 bronchopulmonary dysplasia, 904 syndromes, 795 hypoxic-ischemic encephalopathy, 2192 transport, 297 Alopecia, 2420, 2421 trapping, 899, 985 Alpha-1-antitrypsin deficiency (AATD), 1213–1214, and MAS, 794 1235–1236 Airway Alpha-fetoprotein (AFP), 1650, 1656, 1853, 2129–2130 compliance, 901 Alpha-1 proteinase inhibitor (α1P1), 904 disease 5-Alpha-reductase deficiency, 1907 airway obstruction, 778, 901 Alport’s syndrome, 1476 bronchoscopy, 752 Alterations in surfactant lipid, 898 endotracheal intubation, 386, 429–431, Aluminium, 614 794, 901 Alveolar extubation, 815, 862, 902 capillary dysplasia, 754–755, 830, 919 INSURE, 434 development, 890 laryngomalacia, 770 disorders, 928–929 lung cyst, 744 phase, 890 mechanical ventilation, 209 rhabdomyosarcoma, 1650 respiratory distress syndrome, 980, 997 surface, 802–803 subglottic stenosis, 386, 898 ventilation, 765–766 surfactant therapy, 995–1004 Alveolar-capillary membrane formation, 736 tracheomalacia and bronchomalacia, 737, 898, Alveoli, 875 901, 1284 Ambient humidity, 329–336 tracheostomy, 209 Ambiguity, 224 vocal cord paralysis, 1087 Amblyopia, 247 weaning from ventilation, 861, 984 of the cortico-spinal system, 272 granulomas, 901 Ambulance, 296 management in neonate, 385 American Academy of Pediatrics (AAP) guidelines, 1155, obstruction, 901 1158, 1163 reflexes, 1029 hospital discharge, late preterm infants, 181 resistance, 763–765 jaundice, 180 Alagille syndrome, 1213, 1226, 1238–1239, 1922 American College of Critical Care Medicine (ACCM), 1777 diffuse xantomata, 1214 Amiel-Tison neurologic assessment at term typical facies, 1213 (ATNAT), 2059 2462 Index Amikacin, 1737 hemolytic disease, 1156–1161 Amino acid hydrops, 1515–1521 disorders, 472 hypoproliferative anemias, 1506–1508 enteral feeding, 595–602 in hypoxia, 772 inborn errors of metabolism, 1808 immune-mediated hemolytic disease, 1498–1500 maple syrup urine disease, 2100 Kasabach–Merritt syndrome, 2419 non-ketotic hyperglycinemia, 1823, 2077, 2100 neonatal reference intervals, 1491–1497 parenteral nutrition, 605–616 oxidative stress, 449 transporters, 518 perinatal hemorrhage, 1503–1504 Amino acid-based formula, 581 physical examination of the newborn, 460 Aminoglycosides, 1736 postnatal hemorrhage, 1504–1505 Amiodarone, 1520 of prematurity, 1506–1508 Ammonia, 602 prenatal hemorrhage, 1500–1503 Amniocentesis, 8, 10, 96, 1156–1157, 1517–1519 preterm neonate, 477 Amnioinfusion, 794, 927 SIDS, 1027 Amnioscopy, 112 syndromes associated with congenital anemia, 1507 Amniotic bands, 51, 2422 Anencephaly, 4, 2129 Amniotic fluid, 8, 54, 112 Anesthesia, 383–393 and chorioamnionitis, 96, 98–100 implications in newborn, 385 index, 112, 747 principal drugs, 387 Amoxicillin, 1745, 1748 Aneuploidy, 8, 57, 133 Amphotericin, 1753, 1781 Angelman syndrome (AS), 46 Ampicillin, 1734, 1736, 1737, 1743, 1754 Angiogenesis, 890 Amplitude integrated EEG
Recommended publications
  • Increased Nuchal Translucency Precision Panel
    Increased Nuchal Translucency Precision Panel Overview Increased Nuchal Translucency (NT) is defined as an abnormal accumulation of fluid in the nuchal area, which is visualized as a thickened sonolucent area. It is a standardized measure obtained between 11 and 14 weeks of gestation to calculate the risk of a fetus being affected by a chromosomal aneuploidy. NT>3.5mm has been found to be associated with fetal chromosomal abnormalities and single-gene disorders as well as cardiac defects and other structural abnormalities in euploid and aneuploid fetuses. Proportionally as NT increases, even with a normal karyotype, there is a higher risk of adverse pregnancy outcomes such as miscarriage, intrauterine death, congenital heart defects and numerous other structural and genetic syndromes. There is not one single cause of increased NT, it is based on a complex and multifactorial process, linked to one or more embryonic processes. It has been shown that a persistently increased NT with a normal karyotype and aCGH has a 4-10% probability of being associated to Noonan Syndrome and/or other RASopathies using Whole Exome Sequencing (WES). However, the general tendency following detection of isolated enlarged NT in an euploid fetus is that most babies with normal detailed ultrasound examination and echocardiography will have uneventful outcomes. The Igenomix Increased Nuchal Translucency Precision Panel can be used to make a directed and accurate prenatal differential diagnosis of increased nuchal translucency in patients with or without a normal karyotype ultimately leading to a better management and prognosis of the associated comorbidities. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
    [Show full text]
  • WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure
    Journal of Clinical Immunology (2019) 39:532–556 https://doi.org/10.1007/s10875-019-00665-w CME REVIEW WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure Lauren E. Heusinkveld1,2 & Shamik Majumdar1 & Ji-Liang Gao1 & David H. McDermott1 & Philip M. Murphy1 Received: 22 April 2019 /Accepted: 26 June 2019 /Published online: 16 July 2019 # This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2019 Abstract WHIM syndrome is a rare combined primary immunodeficiency disease named by acronym for the diagnostic tetrad of warts, hypogammaglobulinemia, infections, and myelokathexis. Myelokathexis is a unique form of non-cyclic severe congenital neutropenia caused by accumulation of mature and degenerating neutrophils in the bone marrow; monocytopenia and lympho- penia, especially B lymphopenia, also commonly occur. WHIM syndrome is usually caused by autosomal dominant mutations in the G protein-coupled chemokine receptor CXCR4 that impair desensitization, resulting in enhanced and prolonged G protein- and β-arrestin-dependent responses. Accordingly, CXCR4 antagonists have shown promise as mechanism-based treatments in phase 1 clinical trials. This review is based on analysis of all 105 published cases of WHIM syndrome and covers current concepts, recent advances, unresolved enigmas and controversies, and promising future research directions. Keywords Chemokine . CXCL12 . CXCR4 . CXCR2 . myelokathexis . human papillomavirus . plerixafor Historical Background [M:E] ratio with a “shift to the right”); and (3) numerous dysmorphic bone marrow neutrophils having cytoplasmic Myelokathexis was first described as a new type of severe hypervacuolation and hyperlobulated pyknotic nuclear lobes congenital neutropenia in 1964 by Krill and colleagues from connected by long thin strands (Fig.
    [Show full text]
  • Abstracts from the 9Th Biennial Scientific Meeting of The
    International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):15 DOI 10.1186/s13633-017-0054-x MEETING ABSTRACTS Open Access Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE) Tokyo, Japan. 17-20 November 2016 Published: 28 Dec 2017 PS1 Heritable forms of primary bone fragility in children typically lead to Fat fate and disease - from science to global policy a clinical diagnosis of either osteogenesis imperfecta (OI) or juvenile Peter Gluckman osteoporosis (JO). OI is usually caused by dominant mutations affect- Office of Chief Science Advsor to the Prime Minister ing one of the two genes that code for two collagen type I, but a re- International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):PS1 cessive form of OI is present in 5-10% of individuals with a clinical diagnosis of OI. Most of the involved genes code for proteins that Attempts to deal with the obesity epidemic based solely on adult be- play a role in the processing of collagen type I protein (BMP1, havioural change have been rather disappointing. Indeed the evidence CREB3L1, CRTAP, LEPRE1, P4HB, PPIB, FKBP10, PLOD2, SERPINF1, that biological, developmental and contextual factors are operating SERPINH1, SEC24D, SPARC, from the earliest stages in development and indeed across generations TMEM38B), or interfere with osteoblast function (SP7, WNT1). Specific is compelling. The marked individual differences in the sensitivity to the phenotypes are caused by mutations in SERPINF1 (recessive OI type obesogenic environment need to be understood at both the individual VI), P4HB (Cole-Carpenter syndrome) and SEC24D (‘Cole-Carpenter and population level.
    [Show full text]
  • FGFR2 Mutations in Pfeiffer Syndrome
    © 1995 Nature Publishing Group http://www.nature.com/naturegenetics correspondent FGFR2 mutations in Pfeiffer syndrome Sir-In the past few months, several genetic diseases have been ascribed to mutations in genes of the fibroblast growth factor receptor (FGFR) family, including achondroplasia (FGFR3) J-z, Crouzon syndrome (FGFR2)3 and 4 m/+ Pfeiffer syndrome (FGFR1) • In D321A addition, two clinically distinct N:Jl GIJ; AM craniosynostotic conditions, Jackson­ ~ Weiss and Crouzon syndromes, have c been ascribed to allelic mutations in the FGFR2 gene, suggesting that FGFR2mutations might have variable 5 phenotypic effects • We have recently FGFR2 found point mutations in the m/+ gene in two unrelated cases of Pfeiffer syndrome supporting the view that this craniosynostotic syndrome, is a 4 6 genetically heterogenous condition • • Pfeiffer syndrome is an autosomal dominant form of acrocephalo­ Fig. 1 Mutations of FGFR2 in two unrelated patients with craniofacial, hand syndactyly (ACS) characterized by and foot anomalies characteristic of Pfeiffer syndrome. Note midface craniosynostosis (brachycephaly retrusion, hypertelorism, proptosis and radiological evidence of enlargement type) with deviation and enlargement of thumb, with ankylosis of the second and third phalanges and the short, broad and deviated great toes. m, mutation; +, wild type sequence. The of the thumbs and great toes, sequence of wild type and mutant genes are shown and the arrow indicates brachymesophalangy, with pha­ the base substitution resulting in the mutation. langeal ankylosis and a varying degree of soft tissue syndactyly7.8. One of our sporadic cases and one familial form of ACS fulfilled the clinical criteria ofthe Pfeiffer syndrome, with particular respect to interphalangeal an aspartic acid into an alanine in the Elisabeth Lajeunie ankylosis (Fig.
    [Show full text]
  • Crouzon Syndrome Genetic and Intervention Review
    Journal of Oral Biology and Craniofacial Research 9 (2019) 37–39 Contents lists available at ScienceDirect Journal of Oral Biology and Craniofacial Research journal homepage: www.elsevier.com/locate/jobcr Crouzon syndrome: Genetic and intervention review ∗ T N.M. Al-Namnama, , F. Haririb, M.K. Thongc, Z.A. Rahmanb a Department of Oral Biology, Faculty of Dentistry, University of MAHSA, 42610, Jenjarum, Selangor, Malaysia b Department of Oro-Maxillofacial Clinical Science, Faculty of Dentistry, University of Malaya, 50603, Kuala Lumpur, Malaysia c Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia ARTICLE INFO ABSTRACT Keywords: Crouzon syndrome exhibits considerable phenotypic heterogeneity, in the aetiology of which genetics play an Crouzon syndrome important role. FGFR2 mediates extracellular signals into cells and the mutations in the FGFR2 gene cause this Molecular pathology syndrome occurrence. Activated FGFs/FGFR2 signaling disrupts the balance of differentiation, cell proliferation, Genetic phenotype and apoptosis via its downstream signal pathways. However, very little is known about the cellular and mole- cular factors leading to severity of this phenotype. Revealing the molecular pathology of craniosynostosis will be a great value for genetic counselling, diagnosis, prognosis and early intervention programs. This mini-review summarizes the fundamental and recent scientific literature on genetic disorder of Crouzon syndrome and presents a graduated strategy for the genetic approach, diagnosis and the management of this complex cra- niofacial defect. 1. Introduction known. CS commonly starts at the first three years of life.4 Craniosy- nostosis can be suspected during antenatal stage via ultrasound scan Craniosynostosis is a birth defect characterized by premature fusion otherwise is often detected at birth from its classic crouzonoid features of one or more of the calvarial sutures before the completion of brain of the newborn.
    [Show full text]
  • Advances in Understanding the Genetics of Syndromes Involving Congenital Upper Limb Anomalies
    Review Article Page 1 of 10 Advances in understanding the genetics of syndromes involving congenital upper limb anomalies Liying Sun1#, Yingzhao Huang2,3,4#, Sen Zhao2,3,4, Wenyao Zhong1, Mao Lin2,3,4, Yang Guo1, Yuehan Yin1, Nan Wu2,3,4, Zhihong Wu2,3,5, Wen Tian1 1Hand Surgery Department, Beijing Jishuitan Hospital, Beijing 100035, China; 2Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China; 3Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing 100730, China; 4Department of Orthopedic Surgery, 5Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China Contributions: (I) Conception and design: W Tian, N Wu, Z Wu, S Zhong; (II) Administrative support: All authors; (III) Provision of study materials or patients: All authors; (IV) Collection and assembly of data: Y Huang; (V) Data analysis and interpretation: L Sun; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Wen Tian. Hand Surgery Department, Beijing Jishuitan Hospital, Beijing 100035, China. Email: [email protected]. Abstract: Congenital upper limb anomalies (CULA) are a common birth defect and a significant portion of complicated syndromic anomalies have upper limb involvement. Mostly the mortality of babies with CULA can be attributed to associated anomalies. The cause of the majority of syndromic CULA was unknown until recently. Advances in genetic and genomic technologies have unraveled the genetic basis of many syndromes- associated CULA, while at the same time highlighting the extreme heterogeneity in CULA genetics. Discoveries regarding biological pathways and syndromic CULA provide insights into the limb development and bring a better understanding of the pathogenesis of CULA.
    [Show full text]
  • 2018 Etiologies by Frequencies
    2018 Etiologies in Order of Frequency by Category Hereditary Syndromes and Disorders Count CHARGE Syndrome 958 Down syndrome (Trisomy 21 syndrome) 308 Usher I syndrome 252 Stickler syndrome 130 Dandy Walker syndrome 119 Cornelia de Lange 102 Goldenhar syndrome 98 Usher II syndrome 83 Wolf-Hirschhorn syndrome (Trisomy 4p) 68 Trisomy 13 (Trisomy 13-15, Patau syndrome) 60 Pierre-Robin syndrome 57 Moebius syndrome 55 Trisomy 18 (Edwards syndrome) 52 Norrie disease 38 Leber congenital amaurosis 35 Chromosome 18, Ring 18 31 Aicardi syndrome 29 Alstrom syndrome 27 Pfieffer syndrome 27 Treacher Collins syndrome 27 Waardenburg syndrome 27 Marshall syndrome 25 Refsum syndrome 21 Cri du chat syndrome (Chromosome 5p- synd) 16 Bardet-Biedl syndrome (Laurence Moon-Biedl) 15 Hurler syndrome (MPS I-H) 15 Crouzon syndrome (Craniofacial Dysotosis) 13 NF1 - Neurofibromatosis (von Recklinghausen dis) 13 Kniest Dysplasia 12 Turner syndrome 11 Usher III syndrome 10 Cockayne syndrome 9 Apert syndrome/Acrocephalosyndactyly, Type 1 8 Leigh Disease 8 Alport syndrome 6 Monosomy 10p 6 NF2 - Bilateral Acoustic Neurofibromatosis 6 Batten disease 5 Kearns-Sayre syndrome 5 Klippel-Feil sequence 5 Hereditary Syndromes and Disorders Count Prader-Willi 5 Sturge-Weber syndrome 5 Marfan syndrome 3 Hand-Schuller-Christian (Histiocytosis X) 2 Hunter Syndrome (MPS II) 2 Maroteaux-Lamy syndrome (MPS VI) 2 Morquio syndrome (MPS IV-B) 2 Optico-Cochleo-Dentate Degeneration 2 Smith-Lemli-Opitz (SLO) syndrome 2 Wildervanck syndrome 2 Herpes-Zoster (or Hunt) 1 Vogt-Koyanagi-Harada
    [Show full text]
  • Repercussions of Inborn Errors of Immunity on Growth☆ Jornal De Pediatria, Vol
    Jornal de Pediatria ISSN: 0021-7557 ISSN: 1678-4782 Sociedade Brasileira de Pediatria Goudouris, Ekaterini Simões; Segundo, Gesmar Rodrigues Silva; Poli, Cecilia Repercussions of inborn errors of immunity on growth☆ Jornal de Pediatria, vol. 95, no. 1, Suppl., 2019, pp. S49-S58 Sociedade Brasileira de Pediatria DOI: https://doi.org/10.1016/j.jped.2018.11.006 Available in: https://www.redalyc.org/articulo.oa?id=399759353007 How to cite Complete issue Scientific Information System Redalyc More information about this article Network of Scientific Journals from Latin America and the Caribbean, Spain and Journal's webpage in redalyc.org Portugal Project academic non-profit, developed under the open access initiative J Pediatr (Rio J). 2019;95(S1):S49---S58 www.jped.com.br REVIEW ARTICLE ଝ Repercussions of inborn errors of immunity on growth a,b,∗ c,d e Ekaterini Simões Goudouris , Gesmar Rodrigues Silva Segundo , Cecilia Poli a Universidade Federal do Rio de Janeiro (UFRJ), Faculdade de Medicina, Departamento de Pediatria, Rio de Janeiro, RJ, Brazil b Universidade Federal do Rio de Janeiro (UFRJ), Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Curso de Especializac¸ão em Alergia e Imunologia Clínica, Rio de Janeiro, RJ, Brazil c Universidade Federal de Uberlândia (UFU), Faculdade de Medicina, Departamento de Pediatria, Uberlândia, MG, Brazil d Universidade Federal de Uberlândia (UFU), Hospital das Clínicas, Programa de Residência Médica em Alergia e Imunologia Pediátrica, Uberlândia, MG, Brazil e Universidad del Desarrollo,
    [Show full text]
  • Genes in Eyecare Geneseyedoc 3 W.M
    Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 This information has been gathered from several sources; however, the principal source is V. A. McKusick’s Mendelian Inheritance in Man on CD-ROM. Baltimore, Johns Hopkins University Press, 1998. Other sources include McKusick’s, Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore. Johns Hopkins University Press 1998 (12th edition). http://www.ncbi.nlm.nih.gov/Omim See also S.P.Daiger, L.S. Sullivan, and B.J.F. Rossiter Ret Net http://www.sph.uth.tmc.edu/Retnet disease.htm/. Also E.I. Traboulsi’s, Genetic Diseases of the Eye, New York, Oxford University Press, 1998. And Genetics in Primary Eyecare and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley’s book Genome published in 2000 by Perennial provides additional information. Ridley estimates that we have 60,000 to 80,000 genes. See also R.M. Henig’s book The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, published by Houghton Mifflin in 2001 which tells about the Father of Genetics. The 3rd edition of F. H. Roy’s book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002 facilitates differential diagnosis. Additional information is provided in D. Pavan-Langston’s Manual of Ocular Diagnosis and Therapy (5th edition) published by Lippincott Williams & Wilkins in 2002. M.A. Foote wrote Basic Human Genetics for Medical Writers in the AMWA Journal 2002;17:7-17. A compilation such as this might suggest that one gene = one disease.
    [Show full text]
  • “Leprechaunism” with a Novel Mutation in the Insulin Receptor Gene
    Case Report A case of Donohue syndrome “Leprechaunism” with a novel mutation in the insulin receptor gene Birgül Kirel1, Özkan Bozdağ2, Pelin Köşger2, Sultan Durmuş Aydoğdu2, Eylem Alıncak2, Neslihan Tekin3 1Osmangazi University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Eskişehir, Turkey 2Osmangazi University, Faculty of Medicine, Department of Pediatrics, Division of General Pediatrics, Eskişehir, Turkey 3Osmangazi University, Faculty of Medicine, Department of Pediatrics, Division of Neonatalogy, Eskişehir, Turkey Cite this article as: Kirel B, Bozdağ Ö, Köşger P, Durmuş Aydoğdu S, Alıncak E, Tekin N. A case of Donohue syndrome “Leprechaunism” with a novel mutation in the insulin receptor gene. Turk Pediatri Ars 2017; 52: 226-30. Abstract She was diagnosed as having Donohue syndrome. Metformin and continuous nasogastric feeding were administrated. During fol- Donohue syndrome (Leprechaunism) is characterized by severe low-up, relatively good glycemic control was obtained. However, insulin resistance, hyperinsulinemia, postprandial hyperglycemia, severe hypertrophic obstructive cardiomyopathy and severe malnu- preprandial hypoglycemia, intrauterine and postnatal growth retar- trition developed. She died aged 75 days of severe heart failure and dation, dysmorphic findings, and clinical and laboratory findings pneumonia. Her insulin receptors gene analysis revealed a com- of hyperandrogenemia due to homozygous or compound heterozy- pound heterozygous mutation. One of these mutations was a p.R813 gous inactivating mutations in the insulin receptor gene. A female (c.2437C>T) mutation, which was defined previously and shown also newborn presented with lack of subcutaneous fat tissue, bilateral in her father, the other mutation was a novel p.777-790delVAAF- simian creases, hypertrichosis, especially on her face, gingival hy- PNTSSTSVPT mutation, also shown in her mother.
    [Show full text]
  • Generalized Hypertrichosis
    Letters to the Editor case of female. Ambras syndrome is a type of universal Generalized hypertrichosis affecting the vellus hair, where there is uniform overgrowth of hair over the face and external hypertrichosis ear with or without dysmorphic facies.[3] Patients with Gingival fi bromaatosis also have generalized hypertrichosis Sir, especially on the face.[4] Congenital hypertrichosis can A 4-year-old girl born out of non-consanguinous marriage occur due to fetal alcohol syndrome and fetal hydentoin presented with generalized increase in body hair noticed syndrome.[5] Prepubertal hypertrichosis is seen in otherwise since birth. None of the other family members were healthy infants and children. There is involvement of affected. Hair was pigmented and soft suggesting vellus hair. face back and extremities Distribution of hair shows an There was generalized increase in body hair predominantly inverted fi r-tree pattern on the back. More commonly seen affecting the back of trunk arms and legs [Figures 1 and 2]. in Mediterranean and South Asian descendants.[6] There is Face was relatively spared except for fore head. Palms and soles were spared. Scalp hair was normal. Teeth and nail usually no hormonal alterations. Various genodermatosis were normal. There was no gingival hypertrophy. No other associated with hypertrichosis as the main or secondary skeletal or systemic abnormalities were detected clinically. diagnostic symptom are: Routine blood investigations were normal. Hormonal Lipoatrophy (Lawrernce Seip syndrome) study was within normal limit for her age. With this Cornelia de Lange syndrome clinical picture of generalized hypertrichosis with no other Craniofacial dysostosis associated anomalies a diagnosis of universal hypertrichosis Winchester syndrome was made.
    [Show full text]
  • Hypochondroplasia and Acanthosis Nigricans
    European Journal of Endocrinology (2008) 159 243–249 ISSN 0804-4643 CLINICAL STUDY Hypochondroplasia and acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? Lidia Castro-Feijo´o*, Lourdes Loidi1,*, Anxo Vidal2, Silvia Parajes1, Elena Roso´n3,AnaA´ lvarez4, Paloma Cabanas, Jesu´s Barreiro, Adela Alonso4, Fernando Domı´nguez1,2 and Manuel Pombo Unidad de Endocrinologı´a Pedia´trica, Crecimiento y Adolescencia, Departamento de Pediatrı´a, Hospital Clı´nico Universitario y Universidad de Santiago de Compostela, 15706 Santiago de Compostela, Spain, 1Unidad de Medicina Molecular, Fundacio´nPu´blica Galega de Medicina Xeno´mica, 15706 Santiago de Compostela, Spain, 2Departamento de Fisiologı´a, Universidad de Santiago de Compostela, 15702 Santiago de Compostella, Spain, 3Servicio de Dermatologı´a, Complejo Hospitalario de Pontevedra, 36001 Pontevedra, Spain and 4Servicio de Radiologı´a, Hospital Clı´nico Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain (Correspondence should be addressed to M Pombo; Email: [email protected]) *L Castro-Feijo´o and L Loidi contributed equally to this work Abstract Background: Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). Acanthosis nigricans (AN) is a velvety and papillomatous pigmented hyperkeratosis of the skin, which has been recognized in some genetic disorders more severe than HCH involving the FGFR3 gene. Objective and design: After initial study of the proband, who had been consulted for short stature and who also presented AN, the study was extended to the patient’s mother and to 12 additional family members.
    [Show full text]