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Causes of Microcephalic osteodysplastic primordial dwarfism, type 1

Microcephalic osteodysplastic primordial dwarfism, type 1 Causes: Book Excerpts

Related information on causes of Microcephalic osteodysplastic primordial dwarfism, type 1:

As with all medical conditions, there may be many causal factors. Further relevant information on causes of Microcephalic osteodysplastic primordial dwarfism, type 1 may be found in:

Causes of Microcephalic osteodysplastic primordial dwarfism, type 1: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the causes of Microcephalic osteodysplastic primordial dwarfism, type 1.

Weight Loss: Differential Diagnosis
(In a Page: Signs and Symptoms)

  • Malignancy
    –Mediated by enhanced production of cytokines (e.g., TNF-α , interleukin-6)
    • Gastrointestinal and malabsorption disorders (e.g., celiac disease, Crohn's disease, cystic fibrosis, PUD)
      –Diarrhea is often present
    • Depression
      –Weight loss is one diagnostic criterion
      –Most common cause of weight loss in outpatient populations
  • HIV infection
  • Hypercalcemia
    –Usually occurs in patients with cancer
  • Advanced cardiac and pulmonary disease
    –CHF (“cardiac cachexia”)
    –COPD
  • Chronic drug use (e.g., alcohol, nicotine, lead, opiates, CNS stimulants)
  • Hyperthyroidism
    –Increased appetite and increased energy expenditure
    –May present with tachycardia, hypertension, brisk reflexes, and ophthalmopathy
  • Uncontrolled diabetes mellitus
  • Hyperemesis gravidarum
    –Pathologic exaggeration of early-pregnancy nausea
    –Elevated β-hCG and estrogen levels
    • Adrenal insufficiency
      –Anorexia, nausea, and fatigue are common
      • Anorexia nervosa
        –May present with low albumin, parotid enlargement, lesions on knuckles and diminished tooth enamel from induced vomiting, and menstrual irregularities
    • Failure to thrive (infants)
      –Parental neglect, emotional deprivation
      –Improper mixing of formula
      –Significant heart (shunts) or lung disease
      –Inborn errors of metabolism
    • Intestinal parasites

    » READ BOOK EXCERPT ONLINE »

    Source: In a Page: Signs and Symptoms, 2004

    Weight Loss: Differential Diagnosis
    (In A Page: Pediatric Signs and Symptoms)

    • Infectious
      –The most common cause overall and can be divided into acute and chronic
      –Gastroenteritis most common infection
      –May be viral, bacterial, fungal, or parasitic
      –Estimated 21–37 million episodes a year in children under 5
      –Others include strep, osteomyelitis, EBV, TB
    • Psychiatric/psychosocial
      –Anorexia nervosa
      –Bulimia
      –Depression
      –Rumination
      –Drugs: Cocaine, amphetamines, laxatives
      • Gastrointestinal disorders
        –Gastroesophageal reflux disease
        –Inflammatory bowel disease
        –Hepatitis
        –Pancreatitis
        –Pancreatic insufficiency (e.g., CF, Shwachman syndrome)
        –Celiac disease
        –Sucrase-isomaltase deficiency
        –Fat malabsorption: Abetalipoproteinemia
        –Protein malabsorption: Hartnup disease
        –Superior mesenteric artery syndrome
    • Nutritional
      –Dieting; inadequate caloric intake
      –Iron deficiency
      –Zinc deficiency
      –Neglect
    • Metabolic/endocrine
      –Diabetes mellitus
      –Diabetes insipidus
      –Addison disease
      –Hyperthyroidism
      –Hypopituitarism
    • Malignancy
    • HIV
    • Acute/chronic renal failure
    • Inflammatory
      –Systemic lupus erythematosus
      –Juvenile rheumatoid arthritis
      –Sarcoidosis
    • Neurologic
      –Increased ICP: Pseudotumor cerebri, mass
    • Cardiopulmonary
      –Cystic fibrosis
      –Congenital heart disease
      –Congestive heart failure

    » READ BOOK EXCERPT ONLINE »

    Source: In A Page: Pediatric Signs and Symptoms, 2007

    Low birth weight: Medical causes
    (Handbook of Signs & Symptoms (Third Edition))

    This section lists some fetal and placental causes of low birth weight as well as the associated signs and symptoms pres-ent in the neonate at birth.

    Chromosomal aberrations

    Abnormalities in the number, size, or configuration of chromosomes can cause low birth weight and possibly multiple congenital anomalies in a premature or SGA neonate

    For example, a neonate with trisomy 21 (Down syndrome) may be SGA and have prominent epicanthal folds, a flat-bridged nose, a protruding tongue, palmar simian creases, muscular hypotonia, and an umbilical hernia.

    Cytomegalovirus infection

    Although low birth weight in cytomegalovirus infection is usually associated with premature birth, the neonate may be SGA

    Assessment at birth may reveal these classic signs: petechiae and ecchymoses, jaundice, and hepatosplenomegaly, which increases for several days. The neonate may also have a high fever, lymphadenopathy, tachypnea, and dyspnea, along with prolonged bleeding at puncture sites.

    Placental dysfunction

    Low birth weight and a wasted appearance occur in an SGA neonate

    He may be symmetrically short or may appear relatively long for his low weight. Additional findings reflect the underlying cause. For example, if maternal hyperparathyroidism caused placental dysfunction, the neonate may exhibit muscle jerking and twitching, carpopedal spasm, ankle clonus, vomiting, tachycardia, and tachypnea.

    Rubella (congenital)

    Usually, the low-birth-weight neonate with this congenital rubellais born at term but is SGA

    A characteristic “blueberry muffin” rash accompanies cataracts, purpuric lesions, hepatosplenomegaly, and a large anterior fontanel

    Abnormal heart sounds, if present, vary with the type of associated congenital heart defect.

    Varicella (congenital)

    Low birth weight is accompanied by cataracts and skin vesicles.

    » READ BOOK EXCERPT ONLINE »

    Source: Handbook of Signs & Symptoms (Third Edition), 2006

    Low birth weight: Medical causes
    (Professional Guide to Signs & Symptoms (Fifth Edition))

    This section lists some fetal and placental causes of low birth weight as well as the associated signs and symptoms present in the neonate at birth.

    Chromosomal aberrations

    Abnormalities in the number, size, or configuration of chromosomes can cause low birth weight and possibly multiple congenital anomalies in a premature or SGA neonate. For example, a neonate with trisomy 21 (Down syndrome) may be SGA and have prominent epicanthal folds, a flat-bridged nose, a protruding tongue, palmar simian creases, muscular hypotonia, and an umbilical hernia.

    Cytomegalovirus infection

    Although low birth weight in this disorder is usually associated with premature birth, some neonates may be SGA. Assessment at birth may reveal these classic signs: petechiae and ecchymoses, jaundice, and hepatosplenomegaly, which increases for several days. The neonate may also have a high fever, lymphadenopathy, tachypnea, and dyspnea, along with prolonged bleeding at puncture sites.

    Placental dysfunction

    Low birth weight and a wasted appearance occur in an SGA neonate. The neonate may be symmetrically short or may appear relatively long for his low weight. Additional findings reflect the underlying cause. For example, if maternal hyperparathyroidism caused placental dysfunction, the neonate may exhibit muscle jerking and twitching, carpopedal spasm, ankle clonus, vomiting, tachycardia, and tachypnea.

    Rubella (congenital)

    Usually, the low-birth-weight neonate with this disease is born at term but is SGA. A characteristic “blueberry muffin” rash accompanies cataracts, purpuric lesions, hepatosplenomegaly, and a large anterior fontanel. Abnormal heart sounds, if present, vary with the type of associated congenital heart defect.

    Toxoplasmosis (congenital)

    The low-birth-weight neonate may be either premature or SGA and may have hydrocephalus or microcephalus. Associated findings include fever, seizures, lymphadenopathy, hepatosplenomegaly, jaundice, and rash. Other defects, which may occur months or years later, include strabismus, blindness, epilepsy, and mental retardation.

    Varicella (congenital)

    Low birth weight is accompanied by cataracts and skin vesicles.

    » READ BOOK EXCERPT ONLINE »

    Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006

    Low birth weight: Medical causes
    (Nursing: Interpreting Signs and Symptoms)

    This section lists some fetal and placental causes of low birth weight as well as the associated signs and symptoms present in the neonate at birth.

    Chromosomal aberrations.Abnormalities in the number, size, or configuration of chromosomes can cause low birth weight and possibly multiple congenital anomalies in a premature or SGA neonate. For example, a neonate with trisomy 21 (Down syndrome) may be SGA and have prominent epicanthal folds, a flat-bridged nose, a protruding tongue, palmar simian creases, muscular hypotonia, and an umbilical hernia.

    Cytomegalovirus infection.Although low birth weight in cytomegalovirus infection is usually associated with premature birth, the neonate may be SGA. Assessment at birth may reveal these classic signs: petechiae and ecchymoses, jaundice, and hepatosplenomegaly, which increases for several days. The neonate may also have a high fever, lymphadenopathy, tachypnea, and dyspnea, along with prolonged bleeding at puncture sites.

    Placental dysfunction.With placental dysfunction, low birth weight and a wasted appearance occur in an SGA neonate. He may be symmetrically short or may appear relatively long for his low weight. Additional findings reflect the underlying cause. For example, if maternal hyperparathyroidism caused placental dysfunction, the neonate may exhibit muscle jerking and twitching, carpopedal spasm, ankle clonus, vomiting, tachycardia, and tachypnea.

    Rubella (congenital).Usually, the low-birth-weight neonate with congenital rubella is born at term but is SGA. A characteristic “blueberry muffin” rash accompanies cataracts, purpuric lesions, hepatosplenomegaly, and a large anterior fontanel. Abnormal heart sounds, if present, vary with the type of associated congenital heart defect.

    Varicella (congenital).With congenital varicella, low birth weight is accompanied by cataracts and skin vesicles.

    » READ BOOK EXCERPT ONLINE »

    Source: Nursing: Interpreting Signs and Symptoms, 2007


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