Journal ArticleDOI
Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers.
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TLDR
An attempt has been made to separate a special syndrome consisting of “aplasia of the radii, amegakaryocytic thrombocytopenia and leukemoid reaction” from the other cases of congenital hypoplastic thromBocy topenia (1, 6, 15).Abstract:
At least two syndromes comprising disturbed blood cell production and congenital abnormalities have been reported. In 1927 Fanconi (7) described three brothers, 5-7 years of age, who developed chronic pancytopenia which proved fatal whitin a year of onset. Patients with Fanconi syndrome often have multiple congenital anomalies, abnormal pigmentation of the skin, stunted growth, strabismus, exaggerated reflexes and microcephaly. Aplasia of the radius is only reported in a few cases (3, 11). Isolated congenital hypoplastic thrombocytopenia associated with one or more anomalies has been reported in at least 35 cases (4, 5 , 8, 12, 15, 18) since Greenwald & Sherman in 1929 reported the first case (9). Cases with known intrauterine viral infections have been excluded. Aplasia of the radii seems to occur in about 2 / 3 of the cases. In fact, an attempt has been made to separate a special syndrome consisting of “aplasia of the radii, amegakaryocytic thrombocytopenia and leukemoid reaction” from the other cases of congenital hypoplastic thrombocytopenia (1, 6, 15). The most frequent other abnormalities are: other skeletal defects, cardiac and urogenital anomalies. Only one case of persistent congenital hypoplastic thrombocytopenia associated with microcephaly has been found in the literature (5 ) .read more
Citations
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Journal ArticleDOI
Dyskeratosis congenita in all its forms.
TL;DR: The dyskeratosis congenita registry (DCR) has identified new features of DC and has been pivotal in the identification of the DKC1 gene which is mutated in X-linked DC.
Journal ArticleDOI
Dyskeratosis congenita
TL;DR: 先天性角化不良是一种少见的光天遗传性皮肤病,其临床三联征包括:甲板营养不 良,
Journal ArticleDOI
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Gillian I. Rice,Teresa Patrick,Rekha Parmar,Claire F Taylor,Alec Aeby,Jean Aicardi,Rafael Artuch,Simon Attard Montalto,Carlos A. Bacino,Bruno Barroso,Peter Baxter,Willam S Benko,Carsten Bergmann,Enrico Bertini,Roberta Biancheri,Edward Blair,Nenad Blau,David T. Bonthron,Tracy A Briggs,Louise Brueton,Han G. Brunner,Christopher J. Burke,Ian M. Carr,Daniel R. Carvalho,Kate Chandler,Hans-Jurgen Christen,Peter Corry,Frances M. Cowan,Helen Cox,Stefano D'Arrigo,John Dean,Corinne De Laet,Claudine De Praeter,Catherine Dery,Colin D. Ferrie,Kim Flintoff,Suzanna G.M. Frints,Angels García-Cazorla,Blanca Gener,Cyril Goizet,Francoise Goutieres,Andrew Green,Agnes Guet,Ben C.J. Hamel,Bruce E. Hayward,Arvid Heiberg,Raoul C.M. Hennekam,Marie Husson,Andrew P. Jackson,Rasieka Jayatunga,Yong-hui Jiang,Sarina G. Kant,Amy Kao,Mary D. King,Helen Kingston,Joerg Klepper,Marjo S. van der Knaap,Andrew J. Kornberg,Dieter Kotzot,Wilfried Kratzer,Didier Lacombe,Lieven Lagae,Pierre Landrieu,Giovanni Lanzi,Andrea Leitch,Ming K. Lim,John H. Livingston,Charles Marques Lourenço,E G Hermione Lyall,Sally Ann Lynch,Michael J. Lyons,Daphna Marom,John P McClure,Robert McWilliam,Serge B. Melançon,Leena D Mewasingh,Marie-Laure Moutard,Ken K. Nischal,John R. Østergaard,Julie S. Prendiville,Magnhild Rasmussen,R. Curtis Rogers,Dominique Roland,Elisabeth Rosser,Kevin Rostasy,Agathe Roubertie,Amparo Sanchis,Raphael Schiffmann,Sabine Scholl-Bürgi,Sunita Seal,Stavit A. Shalev,C Sierra Corcoles,Gyan P Sinha,Doriette Soler,Ronen Spiegel,John B.P. Stephenson,Uta Tacke,Tiong Yang Tan,Marianne Till,John Tolmie,Pam Tomlin,Federica Vagnarelli,Enza Maria Valente,Rudy Van Coster,Nathalie Van der Aa,Adeline Vanderver,Johannes S H Vles,Thomas Voit,Evangeline Wassmer,Bernhard Weschke,Margo L. Whiteford,Michèl A.A.P. Willemsen,Andreas Zankl,Sameer M. Zuberi,Simona Orcesi,Elisa Fazzi,Pierre Lebon,Yanick J. Crow +117 more
TL;DR: The analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder, and indicates that at least one further AGS-causing gene remains to be identified.
Journal ArticleDOI
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
Tom Vulliamy,Tom Vulliamy,Tom Vulliamy,Anna Marrone,Anna Marrone,Anna Marrone,Stuart W. Knight,Stuart W. Knight,Stuart W. Knight,Amanda J. Walne,Amanda J. Walne,Amanda J. Walne,Philip J. Mason,Philip J. Mason,Philip J. Mason,Inderjeet Dokal,Inderjeet Dokal,Inderjeet Dokal +17 more
TL;DR: In the new families described with TERC mutations, there is further evidence of disease anticipation associated with shorter telomeres in the younger generations, and the considerable genetic and phenotypic diversity of DC is highlighted.
Journal ArticleDOI
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
Kenji Ihara,Eiichi Ishii,Mariko Eguchi,Hidetoshi Takada,Aiko Suminoe,Robert A. Good,Toshiro Hara +6 more
TL;DR: In this article, a 10-year-old Japanese girl with Congenital Amegakaryocytic thrombocytopenia (CAMT) was found to be a compound heterozygote for two mutations of the c-mpl gene, each derived from one of the parents.
References
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Journal ArticleDOI
Neonatal Thrombocytopenia Associated with Ante-Partum Administration of Thiazide Drugs
TL;DR: Recently, a group of newborn infants with thrombocytopenia whose mothers had neither a platelet deficiency nor detectable anti-platelet antibody in the serum were observed, however, these mothers had received either chlorothiazides, hydrochlorothiazide or methyclothiazide during pregnancy, and the thromBocy topenia in their infants was possibly due to these drugs.
Journal ArticleDOI
Chronic pancytopenia with multiple congenital abnormalities (Fanconi's anaemia).
TL;DR: The purpose of this article is to review briefly the anaemia of Fanconi, and to present three new cases of the condition, which have shown a familial tendency.
Journal Article
Congenital pancytopenia associated with multiple congenital anomalies (Fanconi type); review of the literature and report of a twenty-year-old female with a ten-year follow-up and apparently good response to splenectomy.
TL;DR: In this paper, a case of hypoplastic anemia with multiple congenital anomalies (Fanconi9s type) was reported and the patient exhibited pancytopenia associated with skin pigmentation, small stature and anomalies of the skeletal and genito-urinary systems.
Journal ArticleDOI
Trisomy 18, esophageal atresia, anomalies of the radius, and congenital hypoplastic thrombocytopenia.
TL;DR: Three cases of trisomy 18 with unusual manifestations that warrant inclusion in the expanding clinical spectrum of this syndrome are observed, one of which died within thirty hours after birth, and a chromosomal karyotype was not obtained.