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62 Possible Causes for Erythrocytes Decreased, Midline Defects

  • Panhypopituitarism

    CONCLUSION: These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects.[] We report on a neonate with unexplained heart failure and minor physical anomalies, suggesting a midline defect. She was diagnosed with complete CPHD.[] 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[]

  • Diaphragmatic Hernia

    Clinical analysis of families with heart, midline, and laterality defects. Am J Med Genet . 2001 ; 101 : 388 – 392 Torfs CP, Curry CJ, Bateson TF, Honore LH.[] The patient was aged 9 years, and Heidenhain reduced the hernia and closed the diaphragmatic defect through a midline laparotomy incision.[] However, these reports concerned eventrations in combination with other midline defects such as a total laryngotracheoesophageal cleft or a heart defect such as an atrial[]

  • Pernicious Anemia

    HOLOPROSENCEPHALY An inborn cranial defect, which is characterized by fusion of midline structures in the brain and face.[]

  • Congenital Aplastic Anemia

    Congenital abnormalities – short stature, midline facial defects, renal, thumb abnormalities and cardiac defects Increased risk of malignancy – leukemia, myelodysplastic syndrome[] Although there is a profound depression of erythrocytes, there are normal or slightly decreased WBCs and platelets.[] […] quantity is decreased) MCV ranges from 80 to 100 (it’s an indicator that is received by division of hematocrit on the erythrocytes quantity) Hypoplastic anemia (reticulocytes[]

  • Anterior Pituitary Hypofunction

    It is characterized by congenital hypogonadotropic hypogonadism and anosmia, possibly with additional midline defects.[] A genetically heterogeneous disorder caused by hypothalamic gnrh deficiency and olfactory nerve defects.[]

  • Langerhans-Cell Histiocytosis

    defects, and 50% remained idiopathic.[] […] and young adults found that 15% had LCH, 11% had a germinoma, and 7% had a craniopharyngioma.[ 42 ] The other diagnoses were related to trauma, familial association, or midline[]

  • Primary Male Hypogonadism

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

  • Adrenal Insufficiency Secondary to Hypopituitarism

    Neonates Hypoglycemia Micropenis Conjugated hyperbilirubinemia Adrenal crisis secondary to hypocortisolism (vomiting, hypotension) Failure to thrive Midline defects (cleft[]

  • Fabry Disease

    […] of midline structures and postzygotic changes in the genetic material, including somatic mutations [ 62 ].[] The absence of significant amounts of globoside and Gb3 in mouse erythrocytes may underlie decreased storage of the glycolipid in vascular endothelial cells and specific tissues[] There are many other possible explanations for discordant phenotypes between monozygotic twins: environmental causes, several embryologic mechanisms, vascular abnormalities, defect[]

  • Diamond-Blackfan Anemia

    Herein, we describe a female infant with multiple midline defects associated with DBA and reaffirm the absence of RPS-19 mutations in DBA patients with facial anomalies.[] Furthermore, the enforced expression of miR-142-3p, a uniquely expressed miRNA, causes a significant decrease in primitive erythrocyte progenitor cells and HSCs.[] […] than the decrease in number of erythrocytes. hypochromic microcytic anemia any anemia with microcytes that are hypochromic (reduced in size and in hemoglobin content); the[]

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