Neonatology Book

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Head CircumferenceAka: Microcephaly, Microcephalic Infant, Macrocephaly, Macrocephalic Infant

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  1. See Also
    1. Newborn Head and Neck Exam
    2. Newborn Neurologic Exam
    3. Craniosynostosis
    4. Fontanelle
  2. Head Size Measurement
    1. Normal term newborn head circumference: 33 to 38 cm
    2. Technique
      1. Measuring tape around frontal forehead and occiput
      2. Take largest of several measurements
  3. Macrocephaly causes
    1. Familial with autosomal dominant inheritance
    2. Hydrocephalus
    3. Other conditions
      1. Achondroplasia (skeletal dysplasia)
      2. Sotos' Syndrome (Cerebral Gigantism)
      3. Alexander's Disease
      4. Canavan's Disease
      5. Gangliosidoses
      6. Glutaric aciduria Type I
      7. Neurofibromatosis Type I
  4. Microcephaly cause
    1. Familial
    2. Trisomy 13
    3. Trisomy 18 (Edward Syndrome)
    4. Trisomy 21 (Down Syndrome)
    5. Cornelia de Lange
    6. Rubinstein-Taybi
    7. Smith-Lemli-Opitz
    8. Prader-Willi
    9. Teratogen Exposure
      1. Fetal Alcohol Syndrome
      2. Radiation exposure in utero (<15 weeks gestation)
      3. Fetal Hydantoin
    10. TORCH Virus congenital infection
      1. Cytomegalovirus
      2. Rubella
      3. Toxoplasmosis
    11. Other causes
      1. Meningitis or Encephalitis
      2. Gestational Diabetes
      3. Maternal hyperphenylalaninemia
      4. Hypoxic-ischemic encephalopathy
  5. Diagnostic evaluation for Microcephaly
    1. Maternal phenylalanine level
    2. Karyotype of child for suspected congenital abnormality
    3. Head imaging (Head Ultrasound, Head CT, Head MRI)
    4. Amino acid analysis (fasting plasma and urine)
    5. Serum ammonium
    6. TORCH Virus serum titers (mother and child)
    7. Urine Culture for Cytomegalovirus
  6. References
    1. Behrman (2000) Nelson Pediatrics, Saunders, p. 1809
    2. Goetz (1999) Clinical Neurology, Saunders, p. 512
    3. Fuloria (2002) Am Fam Physician 65(1):61

Microcephaly (C0025958)

Definition (MSH)A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Definition (CSP)abnormal smallness of the brain.
ConceptsCongenital Abnormality (T019)
ICD9742.1, 742.1
MSHD008831
Englishmicrencephala, Micrencephaly, Microcephalies, Microcephalus, Microcephaly, microencephaly, Nanocephaly
Spanishmicrocefalia, microcefalo, microencefalia
Parent ConceptsAnencephaly (C0002902), Congenital disease of brain (C0596364), Other nervous system congenital anomalies (C0158538), Craniofacial Abnormalities (C0376634), Malformations of Cortical Development (C1955869), Brain Diseases (C0006111), Microcephaly (C0025958), Duplicate concept (C1274013)
SourcesAOD, CSP, CST, DXP, ICD9CM, LCH, MSH, MTHICD9, NDFRT, OMIM, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)


Macrocephaly (C0221355)

ConceptsCongenital Abnormality (T019) , Disease or Syndrome (T047)
EnglishEnlarged brain, Macrocephalus, Macrocephaly, Macroencephaly, Megacephaly, Megalocephaly
Spanishmacrocefalia, macrocefalo
Parent ConceptsDeformity (C0302142), Congenital anomaly of head (C0520555), Ambiguous concept (C1274012), Duplicate concept (C1274013)
SourcesDXP, MTH, NCI, OMIM, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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