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542 Possible Causes for Midline Defects, Turner Syndrome

  • Hypertelorism

    OBJECTIVE: Twenty-four patients were evaluated to better characterize neurological and neuroradiological aspects of midline facial defects with ocular hypertelorism.[] syndromic trisomy 21 trisomy 13 monosomy X - Turner syndrome non aneuploidic syndromic Aarskog syndrome Apert syndrome 1 Crouzon syndrome 1 DiGeorge syndrome Ehlers-Danlos[] Compare hypotelorism. hypertelorism separation of paired tissues–eg, breasts, eyes Breast Rare–seen in Turner syndrome Ocular A craniofacial defect seen in congenital syndromes–eg[]

  • Familial Short Stature

    Multiple syndromic or dysmorphic features: abnormal facies, midline defects, body disproportions. Bone age: delayed by more than two standard deviations.[] Ellison JW et al. (1997) PHOG, a candidate gene for involvement in the short stature of Turner syndrome. [ ] 14.[] Midline defects such as cleft palate may also be associated with panhypopituitarism or specific deficits in growth hormone or thyroid hormone production.[]

  • Pituitary Dwarfism

    It is also sometimes seen in children with midline defects such as cleft palate.[] Turner’s Syndrome Women with Turner’s have the genetic Chromosomes XO, and the absent chromosome creates the problems that occur.[] It is characterized by congenital hypogonadotropic hypogonadism and anosmia, possibly with additional midline defects.[]

  • Pentalogy of Cantrell

    SYNDROME; THAS Cantrell pentalogy Thoraco-abdominal syndrome Midline Defects, X-Linked Cantrell syndrome THAS Cantrell deformity Cantrell Haller Ravitsch syndrome Statements[] POC may occur in association with Trisomy 13, 18, Down syndrome and Turner syndrome (see these terms). Etiology The etiology of POC is still unknown.[] Molar Pregnancy 16 HAIRAN Syndrome 138 Turner Syndrome 17 Hermaphroditism True 139 Von HippelLindau Disease 18 Hypophosphatasia 140 Weaver Syndrome 19 Kallmann Syndrome 141[]

  • Hypogonadism

    Other manifestations include microphallus, cryptorchidism, midline defects, and unilateral kidney agenesis.[] Turner syndrome can cause miscarriage. In fact almost 20% of all first trimester miscarriages are down to Turner syndrome.[] Noonan syndrome, Turner syndrome (45X,0), Klinefelter syndrome (47XXY), XY with SRY gene-immunity Secondary - defect lies outside of the gonad: e.g.[]

  • Congenital Heart Disease

    Node and midline defects are associated with left-right development in Delta1 mutant embryos. Development. 2003 ; 130 : 3–13.[] […] and Turner syndrome) Heart valve conditions(such as aortic stenosis and regurgitation and Ebstein’s Anomaly) Other structural heart conditions (such as tetralogy of fallot[] Some of these include the following: Down syndrome (trisomy 21) Trisomy 18 and trisomy 13 Turner's syndrome Cri-du-chat syndrome Wolf-Hirshhorn syndrome DiGeorge syndrome[]

  • Mobius Syndrome

    If the 6th nerve is affected, the eye cannot turn outward past the midline.[] syndromes.[] Other abnormalities include underdevelopment of the pectoral muscles and defects of the limbs. Moebius syndrome is not progressive. The exact cause is unknown.[]

  • Klippel-Feil Syndrome

    Two distinctly separate mechanisms are suggested for the development of split cords observed in our cases: a midline lesion bisecting the neuroepithelium and the notochordal[] A 12-year-old female with Klippel-Feil syndrome (KFS) combined with Turner syndrome (TS) and a submucous cleft palate (CP) was presented.[] […] during fetal development which results in fusion located in cervical vertebra Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry autosomal[]

  • SHOX-Related Short Stature

    Multiple syndromic or dysmorphic features: abnormal facies, midline defects, body disproportions. Bone age: delayed by more than two standard deviations.[] Not all girls with Turner syndrome need treatment with somatropin. Turner syndrome occurs in between 1 in 1500 and 1 in 2500 live female births.[] Midline defects, such as a single central incisor or cleft palate, may be present. 16 Children with congenital GHD may present with neonatal hypoglycemia, prolonged jaundice[]

  • Septo-Optic Dysplasia

    Septo-optic dysplasia, a variable combination of abnormalities of cerebral midline structures, is a clinically heterogeneous syndrome in which the midline defects may be implicated[] syndrome was ruled out as an explanation for her short stature and absent periods Introduce septo-optic dysplasia also called SOD [ edit ] A rare disorder where some of the[] It may also be accompanied by other malformations, including multiple facial dysmorphism, midline defects, cleft lip and palate, musculoskeletal and other non-neurological[]

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