{"id":89295,"date":"2018-02-17T16:26:00","date_gmt":"2018-02-17T16:26:00","guid":{"rendered":""},"modified":"2023-01-06T20:33:16","modified_gmt":"2023-01-06T20:33:16","slug":"malformatiile-congenitale","status":"publish","type":"post","link":"https:\/\/cvnextjob.com\/index.php\/2018\/02\/17\/malformatiile-congenitale\/","title":{"rendered":"Malformatiile congenitale"},"content":{"rendered":"
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<\/span>Malforma\u0163iile congenitale sunt abateri de la dezvoltarea embrionar\u0103 normal\u0103, caracterizate prin alterarea morfologiei \u015fi func\u0163iei unui organ, sistem de organe sau a corpului \u00een \u00eentregime, \u00eent\u00e2lnite la na\u015ftere sau dup\u0103 na\u015ftere. Cu studiul lor se ocup\u0103 TERATOLOGIA general\u0103 \u015fi special\u0103 care s-a diferen\u0163iat ca ramur\u0103 a ANATOMIEI DEZVOLT\u0102RII.<\/span><\/div>\n

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            Con\u0163inutul teratologiei s-a l\u0103rgit treptat \u015fi a evoluat paralel cu achizi\u0163iile dob\u00e2ndite \u00een cunoa\u015fterea DEZVOLT\u0102RII EMBRIONARE. \u00cen prezent, teratologia a devenit unul dintre cele mai interesante \u015fi importante domenii de cercetare ale medicinei teoretice \u015fi practice, \u00een care sunt angrenate mai multe specialit\u0103\u0163i de grani\u0163\u0103. Cre\u015fterea frecven\u0163ei malforma\u0163iilor congenitale \u00een epoca civiliza\u0163iei actuale \u015fi progresele realizate \u00een biologia molecular\u0103 \u015fi genetic\u0103, au determinat extinderea factorilor cercet\u0103rii factorilor teratogeni<\/u> \u015fi a mecanismelor lor de ac\u0163iune sau teratogenezei<\/u>. \u00cen determinismul malforma\u0163iilor congenitale, factorii teratogeni, genetici<\/u> \u015fi de mediu<\/u>, pot ac\u0163iona independent, dar \u00een cea m,ai mare m\u0103sur\u0103 exercit\u0103 ac\u0163iuni conjugate. Prin mijloacele oferite de ingineria genetic\u0103, probabil, \u00een malforma\u0163iile cu determinare genetic\u0103 sau abera\u0163ii patologice din molecule de AND, se vor \u00eenlocui cu gene normale.<\/span><\/div>\n
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            Malforma\u0163iile congenitale au caracter universal. Ele se \u00eent\u00e2lnesc la toate organismele pluricelulare at\u00e2t \u00een lumea animal\u0103, c\u00e2t \u015fi \u00een cea vegetal\u0103, asupra c\u0103rora ac\u0163ioneaz\u0103 factorii teratogeni.<\/span><\/div>\n
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            La om, mult\u0103 vreme, malforma\u0163iile congenitale au fost considerate drept minuni ale naturii sau gre\u015feli ale femeii \u00een cursul gesta\u0163iei. De exemplu, \u00een a 2 a decad\u0103 a secolului al XVII lea, genovezul Lazarus Colloredo, un toracopag parazit , care a tr\u0103it mai mul\u0163i ani, a fost purtat prin Europa spre a fi v\u0103zut\u0103 o asemenea minune. (<\/span>IMAGINE<\/span>). Tot \u00een secolul al XVII lea, odat\u0103 cu dezvoltarea embriologiei, F. K. Wolff, a\u015faz\u0103 teratologia pe bazele moderne ale dezvolt\u0103rii embrionare, iar R\u00e9aumur efectueaz\u0103 primele experien\u0163e, privind influen\u0163a unor factori fizici \u00een teratogenez\u0103. K. E. von Baer, \u00een secolul XVIII, exprim\u0103 punctul de vedere embriologic asupra malforma\u0163iilor congenitale, \u00een timp ce \u00een secolul urm\u0103tor Darwin \u015fi Gegenbauer definescteratologia ca ramur\u0103 a morfologiei \u015fi o leag\u0103 de anatomia comparat\u0103 \u015fi antropologie. \u00cen prima decad\u0103 a secolului nostru, E. Schwalbe, eleboreaz\u0103 una din cele mai documentate puneri la punct a malforma\u0163iilor congenitale p\u00e2n\u0103 la acea vreme, cu no\u0163iuni de teratologie general\u0103 \u015fi special\u0103, \u00een \u201cMorphologie der Missbildungen\u201d (1905), editat\u0103 \u00een c\u00e2teva volume. \u00cen zilele noastre teratologia s-a corelat at\u00e2t de str\u00e2ns cu genetica \u015fi biologia molecular\u0103, \u00eenc\u00e2t \u00een cadrul ei o arie larg\u0103 o are GENETICA TERATOLOGIC\u0102. Concomitent, \u00een clinic\u0103 s-a individualizat o nou\u0103 specialitate, ce se ocup\u0103 cu PATOLOGIA INDUS\u0102 PRENATAL.<\/span><\/div>\n
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            \u00cen mod curent este folosit\u0103 \u00een acest cadru \u015fi no\u0163iunea de ANOMALIE CONGENITAL\u0102 care rep\u0103rezint\u0103 o abatere de la dezvoltarea embrionar\u0103 normal\u0103, care nu afecteaz\u0103 semnificativ func\u0163ia unui organ. Ea se refer\u0103, de regul\u0103, la defecte de un grad mai redus dec\u00e2t malforma\u0163ia. Muta\u0163iile genice sunt considerate \u015fi ele anomalii produse \u00een molecula de AND, cu urm\u0103ri \u00een dezvoltare sau indiferente.<\/span><\/div>\n
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            VARIANTELE anatomice \u015fi biologice sunt abateri de la \u201cnorm\u0103\u201d, care \u0163in de variabilitaea \u00een cadrul speciei. O grani\u0163\u0103 exact\u0103 \u00eentre anumalii \u015fi malforma\u0163ii nu exist\u0103. Din contr\u0103 unii autori sus\u0163in c\u0103 malforma\u0163iile sunt o subgrup\u0103 a anomaliilor congenitale.totu\u0163i o grada\u0163ie VARIANT\u0102 \u2013 ANOMALIE \u2013 MALFORMA\u0162IE congenital\u0103, pare plauzibil\u0103, ele fiind determinate, probabil, de ac\u0163iunea agen\u0163ilor nocivi \u00een etape diferite ale diferen\u0163ierii \u015fi cre\u015fterii embrionare. Este necesar de me\u0163ionat totodat\u0103 c\u0103 cele mai complexe \u015fi grave malforma\u0163ii congenitale sunt MON\u015eTRII (<\/span>IMAGINE<\/span>), majoritatea lor fiind naviabili la na\u015ftere. Ei prezint\u0103 conforma\u0163ii \u015fi structuri vicioase diferite de cele \u00eent\u00e2lnite \u00een mod obi\u015fnuit \u00een cadrul speciei umane.<\/span><\/div>\n
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FRECVEN\u0162A MALFORMA\u0162IILOR. La na\u015ftere, frecven\u0163a medie a malforma\u0163iilor este de 2-3%<\/span> din totalitatea na\u015fterilor. Aceste valori difer\u0103 <\/span>\u00eens\u0103 dup\u0103 \u0163\u0103ri \u015fi gradul lor de dezvoltare, regiuni geografice, ras\u0103, etc. \u00eentruc\u00e2t unele tipuri de malforma\u0163ii se manifest\u0103 la c\u00e2\u0163va ani de la na\u015ftere, cum ar fi cele \u00eenso\u0163ite de surditate, \u00eent\u00e2rzieri mintale, manisme etc., cifrele cele mai crescute ajung p\u00e2n\u0103 la 7,5-8%<\/span>.<\/span><\/div>\n
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            \u00cen prezent, \u00een cadrul Organiza\u0163iei Mondiale a S\u0103n\u0103t\u0103\u0163ii, se contureaz\u0103 tendin\u0163a depist\u0103rii lor precoce pe plan interna\u0163ional \u015fi crearea unor B\u0103nci de date \u015fi supravegherea malforma\u0163iilor congenitale.<\/span><\/div>\n
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CLASIFICAREA MALFORMA\u0162IILOR CONGENITALE<\/span><\/div>\n
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            O clasificare cuprinz\u0103toare a malforma\u0163iilor nu s-a putut realiza din cauza variabilit\u0103\u0163ii lor mari, de\u015fi au existat multe \u00eencerc\u0103ri \u00een acest sens. Unele dintre ele intereseaz\u0103 forma \u015fi structura, altele cre\u015fterea, num\u0103rul, pozi\u0163ia organelor, \u00eentinderea, gradul de complexitate etc. (TERATOLOGIA SPECIAL\u0102)<\/span><\/div>\n
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\u00cen teratologia general\u0103<\/span><\/u>, una din clasific\u0103ri \u0163ine seama \u00eendeosebi de mecanismul general de producere al malforma\u0163iilor, raportate la dezvoltarea embrionar\u0103 normal\u0103.<\/span><\/div>\n
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1)      <\/span><\/span>MALFORMA\u0162II PRIN ABSEN\u0162\u0102 SAU LIPS\u0102 DE DEZVOLTARE \u2013 pot interesa: organe, \u0163esuturi, celule<\/span><\/div>\n
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a)      <\/span><\/span>Lipsa de dezvoltare a unui organ<\/span><\/div>\n
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\u00b7        <\/span><\/span>Absen\u0163a membrelor<\/span><\/div>\n
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\u00b7        <\/span><\/span>Absen\u0163a degetelor<\/span><\/div>\n
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\u00b7        <\/span><\/span>Absen\u0163a capului<\/span><\/div>\n
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AGENEZIE \u2013 poate fi:<\/span><\/div>\n
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\u00b7        <\/span><\/span>Total\u0103<\/span><\/div>\n
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\u00b7        <\/span><\/span>Par\u0163ial\u0103<\/span><\/div>\n
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b)      <\/span><\/span>Lipsa de dezvoltare a unui \u0163esut  – lipsa de dezvoltare a \u0163esutului tiroidian (AGENESIA TISULAR\u0102)<\/span><\/div>\n
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c)      <\/span><\/span>La nivel celular, lipsa total\u0103 a pigmentului \u00een celulele:<\/span><\/div>\n
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\u00b7        <\/span><\/span>Pielii<\/span><\/div>\n
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\u00b7        <\/span><\/span>P\u0103rului<\/span><\/div>\n
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\u00b7        <\/span><\/span>Irisului<\/span><\/div>\n
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2)      <\/span><\/span>DEZVOLTAREA INCOMPLET\u0102 SAU OPRIREA \u00ceN DEZVOLTARE \u2013 poate interesa organismul \u00een totalitae sau poate fi localizat\u0103 la nivelul organelor \u015fi \u0163esuturilor<\/span><\/div>\n
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a)      <\/span><\/span>Organismul \u00een totalitate sau poate fi localizat\u0103 la nivelul organelor \u015fi \u0163esuturilor<\/span><\/div>\n
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b)      <\/span><\/span>La nivelul organelor \u015fi p\u0103r\u0163ilor corpului<\/span><\/div>\n
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\u00b7        <\/span><\/span>Degete mari<\/span><\/div>\n
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\u00b7        <\/span><\/span>Gura mic\u0103<\/span><\/div>\n
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\u00b7        <\/span><\/span>Membre mici<\/span><\/div>\n
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c)      <\/span><\/span>Deficien\u0163eletisulare \u2013 pot fi exemplificate prin lipsa de cre\u015ftere la nivelul cartilajelor metafizice<\/span><\/div>\n
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3)      <\/span><\/span>EXAGERAREA DEZVOLT\u0102RII SAU CRE\u015eTEREA \u00ceN EXCES \u2013 poate s\u0103 intereseze organismul \u00een \u00eentregime sau numai organe \u015fi p\u0103r\u0163i ale corpului<\/span><\/div>\n
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a)      <\/span><\/span>Cre\u015fterea \u00een exces a \u00eentregului organism se \u00eent\u00e2lne\u015fte \u00een gigantism<\/span><\/div>\n
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b)      <\/span><\/span>La nivelul organelor \u015fi p\u0103r\u0163ilor corpului, cre\u015fterea \u00een exces:<\/span><\/div>\n
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\u00b7        <\/span><\/span>Gura mare<\/span><\/div>\n
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\u00b7        <\/span><\/span>Membrele mari                      – hiperplazii viscerale<\/u><\/span><\/div>\n
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\u00b7        <\/span><\/span>Degetele mari<\/span><\/div>\n
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– cre\u015fteri numerice<\/span><\/u> \u2013 multiplicarea unor organe:<\/span><\/div>\n
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\u00b7        <\/span><\/span>Membre supranumerare<\/span><\/div>\n
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\u00b7        <\/span><\/span>Mai multe degete<\/span><\/div>\n
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– duplica\u0163ii viscerale<\/span><\/u>:<\/span><\/div>\n
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\u00b7        <\/span><\/span>Ureterul dublu<\/span><\/div>\n
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\u00b7        <\/span><\/span>Vezica biliar\u0103 dubl\u0103           – totale<\/span><\/div>\n
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\u00b7        <\/span><\/span>Uretra dubl\u0103<\/span><\/div>\n
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\u00b7        <\/span><\/span>Ureterul bifurcat                 – par\u0163iale<\/span><\/div>\n
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4)      <\/span><\/span>MALFORMA\u0162II PRIN LIPSA DE ATROFIERE SAU PERSISTEN\u0162A UNOR FORME EMBRIONARE \u015eI FETALE<\/span><\/div>\n
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\u00b7        <\/span><\/span>Persisten\u0163a membranei anale<\/span><\/div>\n
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\u00b7        <\/span><\/span>Vena cav\u0103 dubl\u0103<\/span><\/div>\n
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\u00b7        <\/span><\/span>Sindactilia<\/span><\/div>\n
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5)      <\/span><\/span>ECTOPIILE VISCERALE prin:<\/span><\/div>\n
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\u00b7        <\/span><\/span>Lipsa de cobor\u00e2re a unor organe<\/span><\/u> \u2013 ectopia testicular\u0103<\/span><\/div>\n
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\u00b7        <\/span><\/span>Lipsa de ascensiune<\/span><\/u> \u2013 ectopia renal\u0103<\/span><\/div>\n
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6)      <\/span><\/span>DIFEREN\u0162IERILE ATIPICE ALE UNOR \u0162ESUTURI \u2013 tumorile congenitale<\/span><\/div>\n
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7)      <\/span><\/span>HERMAFRODITISMUL FALS \u015eI ADEV\u0102RAT<\/span><\/div>\n
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8)      <\/span><\/span>ATAVISMUL \u2013 o malforma\u0163ie caracteruzat\u0103 prin apari\u0163ia la om a unor forma\u0163iuni caracteristice altor vertebrate cum este persisten\u0163a mugurelui codal (rudiment de coad\u0103)<\/span><\/div>\n
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S-a \u00eencercat stabilirea unor LEGI TERATOLOGICE, mai generale:<\/span><\/div>\n
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1.      <\/span><\/span>LEGEA BALANSULUI ORGANIC (Hilaire) \u2013 sus\u0163ine c\u0103 dezvoltarea exagerat\u0103 a unor organe se \u00eenso\u0163e\u015fte de lipsa de dezvoltare a altor organe \u015fi invers<\/span><\/div>\n
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2.      <\/span><\/span>LEGEA DEZVOLT\u0102RII TARDIVE \u2013 organele care se dezvolt\u0103 \u00een ritm lent prezint\u0103 cea mai mare variabilitate un num\u0103r crescut de anomalii \u015fi malforma\u0163ii<\/span><\/div>\n
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3.      <\/span><\/span>LEGEA DEZVOLT\u0102RII CENTRIPETE (Serres) \u2013 sus\u0163ine la r\u00e2ndul s\u0103u c\u0103 \u00eentr-un sistem de organe, organele centrale prezint\u0103 mai multe malforma\u0163ii dec\u00e2t cele periferice.<\/span><\/div>\n
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TERATOGENEZA<\/span><\/h1>\n
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            Cercet\u0103rile de teratologie experimental\u0103 ini\u0163iate \u00eenc\u0103 la \u00eenceputul secolului \u015fi altele recente au ar\u0103tat c\u0103 \u0163esuturile, organele \u015fi sistemele de organe str\u0103bat \u00een dezvoltarea lor FAZE CRITICE sau sensibile<\/u> la ac\u0163iunea agen\u0163ilor nocivi, numite \u015fi PERIOADE TERATOGENETICE care sunt proprii fiec\u0103rui \u0163esut \u015fi organ (<\/span>IMAGINE<\/span>). Agen\u0163ii teratogeni care ac\u0163ioneaz\u0103 \u00een aceea\u015fi perioad\u0103 critic\u0103 produc acelea\u015fi efecte.<\/span><\/div>\n
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            De precizat este faptul c\u0103 momentul critic sau determinarea unei malfoma\u0163ii nu se suprapune exact apari\u0163iei morfologice a acesteia. Ac\u0163iunea teratigen\u0103 sau momentul critic precede manifestarea ei morfologic\u0103. Manifestarea morfologic\u0103 a malforma\u0163iei arat\u0103 cel mult termonarea perioadei teratogene.<\/span><\/div>\n
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            FACTORII TERATOGENI au fost \u00eemp\u0103r\u0163i\u0163i \u00een factori ereditari<\/u> (endogeni) \u015fi  factori<\/u>de mediu<\/u> (exogeni). De\u015fi se trateaz\u0103 separat, \u00een geneza celor mai multe malforma\u0163ii, esen\u0163ial\u0103 este INTERAC\u0162IUNEA dintre ace\u015fti factori.<\/span><\/div>\n
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            Ac\u0163iunea factorilor teratogeni depinde \u00een primul r\u00e2nd de FAZA CRITIC\u0102 sua perioada teratogen\u0103. Exist\u0103, \u00eens\u0103, \u015fi alte elemente care condi\u0163ioneaz\u0103 aceast\u0103 ac\u0163iune, cum aer fi GRADUL DE SENSIBILITATE AL SPECIEI fa\u0163\u0103 de agen\u0163ii teratogeni, rasa<\/u> \u015fi constitu\u0163ia genetic\u0103 a fiec\u0103rui individ al speciei. S-a constatat c\u0103 dintre indivizii supu\u015fi ac\u0163iunii aceluia\u015fi factor teratogen, unii r\u0103m\u00e2n nev\u0103t\u0103ma\u0163i, \u00een timp ce al\u0163ii fac malforma\u0163ii.<\/span><\/div>\n
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FACTORII EREDITARI<\/span><\/div>\n
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            \u00cen prezent este cunoscut c\u0103 factorii ereditari determin\u0103 numeroase boli moleculare congenitale sau erori de metabolism, \u00eenso\u0163ite sau nu de malforma\u0163ii congenitale.<\/span><\/div>\n
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            MUTA\u0162IILE sau ANOMALIILE CROMOZOMIILE, pentru care deseori este folosit \u015fi termenul de abera\u0163ii cromozomiale<\/u>, sunt modofic\u0103ri structurale, de form\u0103 \u015fi numerice ale cromozomilor.<\/span><\/div>\n
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ANIMALIILE CROMOZOMALE AUTOZOMALE pot fi numerice \u015fi structurale.<\/span><\/div>\n
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            ANOMALIILE AUTOZOMALE NUMERICE<\/span><\/div>\n
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1)      <\/span><\/span>TRISOMIA 21<\/span><\/b>, numit\u0103 \u015fi SINDROMUL DOWN<\/u> sau MONGOLISMUL<\/u><\/span><\/div>\n
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–         <\/span><\/span>A fost descris\u0103 \u00eenc\u0103 din secolul trecut de Langdon Doen, care a numit-o \u201cidio\u0163enia<\/u> mongolian\u0103<\/u>\u201d \u2013 1:600-700; la copii cu mame peste 45 ani la 1:50<\/span><\/div>\n
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–         <\/span><\/span>Sindromul poate fi diagnosticat la na\u015ftere, iar copii prezint\u0103 ca SEMNE ANATOMOCLINICE<\/b>:<\/span><\/div>\n
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\u2013        <\/span><\/span>Microcefalia<\/span><\/div>\n
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\u2013        <\/span><\/span>\u00cent\u00e2rzierea mental\u0103<\/span><\/div>\n
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\u2013        <\/span><\/span>Nasul mic, cu r\u00eed\u00eecina turtit\u0103<\/span><\/div>\n
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\u2013        <\/span><\/span>Gura mic\u0103 \u015fi \u00eentrdeschis\u0103<\/span><\/div>\n
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\u2013        <\/span><\/span>Urechi mici cu pavilionul deformat<\/span><\/div>\n
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\u2013        <\/span><\/span>G\u00e2t scurt<\/span><\/div>\n
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\u2013        <\/span><\/span>Mambre scurte<\/span><\/div>\n
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\u2013        <\/span><\/span>M\u00e2ini scurte \u015fi l\u0103\u0163ite<\/span><\/div>\n
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   MALFORMA\u0162II CARDIACE<\/b><\/span><\/div>\n
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\u2013        <\/span><\/span>Persisten\u0163a canalului arterial<\/span><\/div>\n
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–         <\/span><\/span>Debilitatea mental\u0103 evolueaz\u0103 prograsiv \u015fi cere \u015fcolarizare special\u0103, iar copii care supravie\u0163uiesc se integreaz\u0103 greu \u00een via\u0163a social\u0103<\/span><\/div>\n
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–         <\/span><\/span>Ca perspectiv\u0103 PROFILAXIA GENETIC\u0102 este esen\u0163ial\u0103 \u00een acest domeniu, iar \u00een cazurile declarate r\u0103m\u00e2n ca posibilit\u0103\u0163i paleative, corectarea unor malforma\u0163ii pe cale operatorie.<\/span><\/div>\n
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2)      <\/span><\/span>TRISOMIA 18<\/span><\/b> sau SINDROMUL EDWARDS<\/u> a fost descris\u0103 \u00een 1960. FRECVEN\u0162A: 1:3000 na\u015fteri<\/span><\/div>\n
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–         <\/span><\/span>\u00cen etiologia sindromului este incriminat ca factor principal v\u00e2rsta avansat\u0103 a mamei<\/span><\/div>\n
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SEMNELE ANATOMO \u2013 CLINICE<\/span><\/h2>\n
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\u2013        <\/span><\/span>Greutate mic\u0103 la na\u015ftere<\/span><\/div>\n
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\u2013        <\/span><\/span>\u00cent\u00e2rziere pronun\u0163at\u0103 \u00een dezvoltare<\/span><\/div>\n
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\u2013        <\/span><\/span>Nasul scurt<\/span><\/div>\n
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\u2013        <\/span><\/span>Urechi jos inserate \u015fi deformate<\/span><\/div>\n
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\u2013        <\/span><\/span>Malforma\u0163ii ale fe\u0163ei<\/span><\/div>\n
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\u2013        <\/span><\/span>Toracele scurt<\/span><\/div>\n
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\u2013        <\/span><\/span>Degetele \u00een flexie permanent\u0103 \u015fi indexul suprapus peste degetul mediu<\/span><\/div>\n
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\u2013        <\/span><\/span>\u00cenapoiere mental\u0103 grav\u0103<\/span><\/div>\n
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\u2013        <\/span><\/span>Malforma\u0163ii asociate grave cardiace, renale, digestive<\/span><\/div>\n
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3)      <\/span><\/span>TRISOMIA 13<\/span><\/b> sau SINDROMUL PATAU<\/u><\/span><\/div>\n
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–         <\/span><\/span>A fost descris \u00een 1960. FRECVEN\u0162A: 1:4000 \u2013 1:7500 na\u015fteri<\/span><\/div>\n
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      SEMNELE ANATOMO \u2013 CLINICE<\/b>:<\/span><\/div>\n
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\u2013        <\/span><\/span>Greutate mic\u0103 la na\u015ftere<\/span><\/div>\n
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\u2013        <\/span><\/span>Defecte ale oaselor craniene<\/span><\/div>\n
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\u2013        <\/span><\/span>Malforma\u0163ii ale creierului anterior<\/span><\/div>\n
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\u2013        <\/span><\/span>Nas mare l\u0103\u0163it<\/span><\/div>\n
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\u2013        <\/span><\/span>Urchi jos inserate, deformate \u015fi surditate<\/span><\/div>\n
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\u2013        <\/span><\/span>Malforma\u0163ii ale fe\u0163ei<\/span><\/div>\n
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\u2013        <\/span><\/span>Sindactilie, polidactilie<\/span><\/div>\n
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\u2013        <\/span><\/span>Suprapunerea degetului mic cu inelarul<\/span><\/div>\n
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\u2013        <\/span><\/span>Picior str\u00e2mb<\/span><\/div>\n
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\u2013        <\/span><\/span>Malforma\u0163ii viscerale multiple:<\/span><\/div>\n
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\u00b7   <\/span><\/span>Cardiace<\/span><\/div>\n
<\/div>\n
\u00b7   <\/span><\/span>Biliare<\/span><\/div>\n
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\u00b7   <\/span><\/span>Pancreatice<\/span><\/div>\n
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\u00b7   <\/span><\/span>Malpozi\u0163ii intestinale<\/span><\/div>\n
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\u00b7   <\/span><\/span>Hernii abdominale<\/span><\/div>\n
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<\/div>\n
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4)      <\/span><\/span>TRISOMIA 22<\/span><\/b> sau SINDROMUL SCHMIDT \u2013 FRACCARO <\/u>(sindromul ochi de pisic\u0103)<\/span><\/div>\n
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–         <\/span><\/span>Se caracterizeaz\u0103 prin<\/span><\/div>\n
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\u00b7   <\/span><\/span>Coloboma irisului (ochi de pisic\u0103)<\/span><\/div>\n
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\u00b7   <\/span><\/span>Atrezie anal\u0103<\/span><\/div>\n
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\u00b7   <\/span><\/span>Malforma\u0163ii: microcefalie \u015fi \u00eent\u00e2rziere mental\u0103<\/span><\/div>\n
<\/div>\n
–         <\/span><\/span>Este extrem de rar\u0103, identificat\u0103 la avorturi \u015fi incompatibil\u0103 cu via\u0163a<\/span><\/div>\n
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ANOMALIILE CROMOZOMIALE GONOZOMALE<\/span><\/div>\n
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\u00d8      <\/span><\/span>Anomalii structurale ale cromozomilor sexuali X \u015fi Y, \u00eent\u00e2lnite frecvent, ce stau la baza unor sindroame, care se exprim\u0103 \u00een tulbur\u0103ri ale diferen\u0163ierii organelor genitale interne \u015fi externe, precum \u015fi a dezvolt\u0103rii somatice.<\/span><\/div>\n
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<\/div>\n
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1)      <\/span><\/span>SINDROMUL TURNER<\/span><\/b> sau MONOSOMIA X<\/span><\/div>\n
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–         <\/span><\/span>A fost descris \u00eenc\u0103 din 1938 de autorul c\u0103ruia \u00eei poart\u0103 numele (<\/span>IMAGINE<\/span>)<\/span><\/div>\n
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–         <\/span><\/span>Exist\u0103 \u015fi o inciden\u0163\u0103 sezonier\u0103 pentru c\u0103 majoritatea na\u015fterilor cu acest sindrom au loc \u00een lunile mai \u2013 octombrie<\/span><\/div>\n
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      SEMNE CARACTERISTICE<\/b>:<\/span><\/div>\n
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\u2013        <\/span><\/span>\u00cen pubertate \u015fi postpubertar:<\/span><\/u><\/span><\/div>\n
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\u00b7        <\/span><\/span>\u00cent\u00e2rzierea matur\u0103rii sexuale<\/span><\/div>\n
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\u00b7        <\/span><\/span>Infantilismul organelor genitale interne \u015fi externe<\/span><\/div>\n
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\u2013      <\/span><\/span>Nou \u2013 n\u0103scutii:<\/span><\/u><\/div>\n
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\u00b7        <\/span><\/span>Greutate \u015fi talie mic\u0103<\/span><\/div>\n
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\u00b7        <\/span><\/span>Prezint\u0103 edeme limfatice ale membrelor care dispar dup\u0103 primul \u015fi al 2 lea an de via\u0163\u0103<\/span><\/div>\n
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\u00b7        <\/span><\/span>Toracele l\u0103\u0163it<\/span><\/div>\n
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\u00b7        <\/span><\/span>Cre\u015fterea este lent\u0103 \u015fi deficitar\u0103, determin\u0103 nanism armonios al fetelor cu acest sindrom<\/span><\/div>\n
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\u00b7        <\/span><\/span>Malforma\u0163ii asociate cardiace<\/span><\/div>\n
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\u00b7        <\/span><\/span>Dezvoltarea mental\u0103 este normal\u0103<\/span><\/div>\n
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2)      <\/span><\/span>SINDROMUL TRIPLO X<\/span><\/b> sau TRISOMIA X<\/u> ( 1:1000 din nou-n\u0103scu\u0163ii de sex feminin)<\/span><\/div>\n
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–         <\/span><\/span>Descris de Jacobs \u015fi colaboratori, \u00een 1959<\/span><\/div>\n
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–         <\/span><\/span>Este mai frecvent dec\u00e2t precedentul<\/span><\/div>\n
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\u00b7        <\/span><\/span>Organele genitale<\/span><\/div>\n
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\u00b7        <\/span><\/span>Pubertatea                      – nu sunt \u00een general modificate<\/span><\/div>\n
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\u00b7        <\/span><\/span>Fertilitatea<\/span><\/div>\n
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\u00b7        <\/span><\/span>Dezvoltarea somatic\u0103<\/span><\/div>\n
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–         <\/span><\/span>Singura modificare ar fi sc\u0103derea inteligen\u0163ei \u00een 2\/3 din cazuri \u015fi unele malforma\u0163ii viscerale<\/span><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

Malforma\u0163iile congenitale sunt abateri de la dezvoltarea embrionar\u0103 normal\u0103, caracterizate prin alterarea morfologiei \u015fi func\u0163iei unui organ, sistem de organe sau a corpului \u00een \u00eentregime, \u00eent\u00e2lnite la na\u015ftere sau dup\u0103 na\u015ftere. Cu studiul lor se ocup\u0103 TERATOLOGIA general\u0103 \u015fi special\u0103 care s-a diferen\u0163iat ca ramur\u0103 a ANATOMIEI DEZVOLT\u0102RII.             Con\u0163inutul teratologiei s-a l\u0103rgit treptat \u015fi a […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[1],"tags":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/cvnextjob.com\/index.php\/wp-json\/wp\/v2\/posts\/89295"}],"collection":[{"href":"https:\/\/cvnextjob.com\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cvnextjob.com\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cvnextjob.com\/index.php\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cvnextjob.com\/index.php\/wp-json\/wp\/v2\/comments?post=89295"}],"version-history":[{"count":0,"href":"https:\/\/cvnextjob.com\/index.php\/wp-json\/wp\/v2\/posts\/89295\/revisions"}],"wp:attachment":[{"href":"https:\/\/cvnextjob.com\/index.php\/wp-json\/wp\/v2\/media?parent=89295"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cvnextjob.com\/index.php\/wp-json\/wp\/v2\/categories?post=89295"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cvnextjob.com\/index.php\/wp-json\/wp\/v2\/tags?post=89295"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}