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853 Possible Causes for 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[wikidata.org] Prenatal detection of an abdominal wall defect associated with multiple midline defects should alert one to the possibility of OEIS complex and pentalogy of Cantrell and prompt[ncbi.nlm.nih.gov] These associations might either illustrate the previously observed tendency of specific occurrence of certain combinations of midline defects or represent defined subunits[ncbi.nlm.nih.gov]

  • 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[ncbi.nlm.nih.gov] It may also be accompanied by other malformations, including multiple facial dysmorphism, midline defects, cleft lip and palate, musculoskeletal and other non-neurological[ncbi.nlm.nih.gov] OBJECTIVE: Controversies exist about posterior pituitary (PP) function in subjects with ectopic PP (EPP) and with cerebral midline defects and/or their co-occurrence.[ncbi.nlm.nih.gov]

  • Hypertelorism

    OBJECTIVE: Twenty-four patients were evaluated to better characterize neurological and neuroradiological aspects of midline facial defects with ocular hypertelorism.[ncbi.nlm.nih.gov] Author information 1 Department of Medical Genetics, University of Campinas (UNICAMP), Campinas, SP, Brazil. msimioni@gmail.com Abstract Midline facial defects with hypertelorism[ncbi.nlm.nih.gov] OBJECTIVES: We studied the neuroimaging and neurophysiological aspects of 17 patients with midline facial defects with ocular hypertelorism (MFDH).[ncbi.nlm.nih.gov]

  • Panhypopituitarism

    CONCLUSION: These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects.[ncbi.nlm.nih.gov] We report on a neonate with unexplained heart failure and minor physical anomalies, suggesting a midline defect. She was diagnosed with complete CPHD.[ncbi.nlm.nih.gov] Children with congenital midline defects or optic atrophy (which suggests the presence of septo-optic dysplasia) and boys with micropenis due to deficit gonadotropin hormones[symptoma.com]

  • Frontonasal Dysplasia

    Frontonasal dysplasia (FND) is a congenital malformation characterized by hypertelorism, broad nasion with a midline cleft in the bony dorsum, midline defect of the frontal[ncbi.nlm.nih.gov] Surgical intervention is often required for midline facial defects 9.[radiopaedia.org] Tuft is the only known mouse model for midline craniofacial defects with an intracranial lipoma.[ncbi.nlm.nih.gov]

  • Hypogonadism

    Other manifestations include microphallus, cryptorchidism, midline defects, and unilateral kidney agenesis.[msdmanuals.com] The genetic defect is known; inheritance is classically X-linked but can also be autosomal dominant or autosomal recessive.[msdmanuals.com]

  • Scoliosis

    Abstract Cantrell's pentalogy (CP) is a rare syndrome characterized by defects in the lower sternum with ectopia cordis, anterior diaphragm defects, midline supraumbilical[ncbi.nlm.nih.gov] The location is defined by the vertebra that is most deviated and rotated from midline, called the apical vertebra.[symptoma.com] […] abdominal wall defects, defects in the diaphragmatic pericardium, and congenital heart disease.[ncbi.nlm.nih.gov]

  • Cystocele

    The type of cystocele that can develop can be due to one, two or three vaginal wall attachment failures: the midline defect, the paravaginal defect, and the transverse defect[en.wikipedia.org] Anterior colporrhaphy The basis of anterior colporrhaphy is plication of the pubocervical fascia with the aims of repairing the midline fascial defects and tightening up the[emedicine.medscape.com] The midline defect is a cystocele caused by the overstretching of the vaginal wall; the paravaginal defect is the separation of the vaginal connective tissue at the arcus[en.wikipedia.org]

  • Umbilical Hernia

    […] supraumbilical incision including the umbilical hernia defect.[ncbi.nlm.nih.gov] Animated Procedures Epigastric Hernias This type of hernia results from a defect in the midline abdomen between the lower end of the anterior chest wall and the umbilicus.[houstonhernia.com] The lump may sometimes seem to be off to one side, but the actual defect (the hole) is always in the midline. What would I see? A bulge or lump beneath the skin.[hernia.org]

  • Arrhinia

    Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.[orpha.net] Assoc conditions include hypertelorism, micropthalmia, coloboma, facial clefts, midline defects, microtia etc 41 1 Reply dr_muhammad_abrar_sa General Practitioner • 30 Sep[dailyrounds.org]

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