Neonatology Book

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Head Circumference

Aka: Head Circumference, Microcephaly, Microcephalic Infant, Macrocephaly, Macrocephalic Infant
  1. See Also
    1. Newborn Head and Neck Exam
    2. Newborn Neurologic Exam
    3. Craniosynostosis
    4. Fontanelle
  2. Exam: 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. Causes: Macrocephaly
    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. Causes: Microcephaly
    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):61-8 [PubMed]

Microcephaly (C0025958)

Definition (MSHCZE) Abnormálně symetricky malá hlava daná primárně buď zpomaleným a nedostatečným vývinem mozku, nebo předčasnou synostózou (v tomto případě je vždy zmenšen i mozek). Obě příčiny působí zpravidla již ve fetálním období, ale vyvíjejí se dále postnatálně v prvních dvou letech života. Škody na mozku (snížení intelektu, psychomotorická retardace, slepota aj.) jsou závislé na růstové aktivitě kostí ve švech a zvětšující se velikosti mozku. Cefalický index je nad 85. M. se vyskytuje např. jako jeden ze symptomů řady genetických syndromů nebo samostatně v rámci vrozené vývojové vady (alterace mozku v prenatálním a časně postnatálním období infekčním agens, intoxikací, závažnou hypoxií, zářením aj.). (cit. Velký lékařský slovník online, 2012 http://lekarske.slovniky.cz/ )
Definition (NCI) A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. It is the result of brain developmental delay.
Definition (PSY) Smallness of the head produced by incomplete development of the brain, often associated with below normal mental and cognitive development.
Definition (CSP) abnormal smallness of the brain.
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.)
Concepts Congenital Abnormality (T019)
MSH D008831
ICD9 742.1
ICD10 Q02
SnomedCT 156893009, 204030002, 204031003, 1829003
English Microcephalies, Microcephaly, Microcephalic, micrencephaly, MICROCEPHALY, Microcephalus NOS, microencephaly, microcephalus (diagnosis), microcephaly (physical finding), microcephalus, micrencephala, microcephaly, microcephaly was seen, Microencephaly, Microcephaly [Disease/Finding], microcephalies, microcephali, microcephalic, Microcephaly (disorder), Micrencephaly (disorder), Microcephalus NOS (disorder), Microcephalus, Micrencephaly, Nanocephaly, Microcephalus (disorder), micrencephalon
French MICROCEPHALIE, Microcéphalique, Microencéphalie, Microcéphalie
Portuguese MICROCEFALIA, Microcefálico, Microencefalia, Microencéfalo, Microcéfalo, Microcefalia
Spanish MICROCEFALIA, Microcefálico, Microencefalia, microcéfalo, SAI (trastorno), microcéfalo, SAI, microcefalia (trastorno), Microcéfalo, Microencéfalo, microcefalia, microcéfalo (trastorno), microcéfalo, microencefalia, Microcefalia
Dutch microcefalisch, microcefalus, micro-encefalie, microcefalie, Microcefalie
German mikrozephalisch, MIKROZEPHALUS, Mikroenzephalie, Mikrozephalus, Mikrozephalie
Italian Microcefalico, Microencefalia, Microcefalia
Japanese 小頭症, ショウトウショウ, 小脳症, ショウノウショウ
Swedish Mikrocefali
Czech mikrocefalie, Mikrocefalie, Mikrocefalus, Mikroencefalie, mikrocephalus, mikrocefalus
Finnish Mikrokefalia
Russian MIKROTSEFALIIA, МИКРОЦЕФАЛИЯ
Korean 소두증
Polish Małogłowie, Mikrocefalia
Hungarian Microcephalus, Microcephalia, Microencephalus
Norwegian Microcefali, Mikrocefali
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Macrocephaly (C0221355)

Definition (MSH) A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).
Definition (MSHCZE) Abnormálně symetricky velká hlava, cefalický index je pod 75. Nejč. vzniká sekundárně při chronickém hydrocefalu z nejrůznějších příčin, a to v době, kdy lebeční švy nejsou ještě synostoticky srostlé nebo vzácněji při primární makrocefalii. Na rtg snímku lbi jsou vidět rozestouplé lební švy a ztenčení kostí lebních. Opak mikrocefalus. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) An abnormally large head. Causes include hydrocephalus, enlarged brain, and cranial hyperostosis.
Concepts Congenital Abnormality (T019)
MSH D058627
ICD10 Q75.3
SnomedCT 205420008, 268154006, 204070009, 19410003, 9740002
English Macrocephaly, Macroencephaly, Macrocephalies, macrencephaly, megalencephaly, macrocephalus, macrocephaly, macroencephaly, Macrocephaly [Disease/Finding], Megalencephalies, Megalencephaly, Megacephaly, Megalocephaly, Megacephalies, Megalocephalies, Macrocephalus, Macrocephaly (disorder), megalocephaly, Macrocephaly NOS
Dutch macrocefalie, macrocefalie NAO, Macrocefalie
French Macrocéphalie SAI, Macrocéphalie
German Makrozephalie NNB, Makrozephalie
Italian Macrocefalia NAS, Macrocefalia
Portuguese Macrocefalia NE, Macrocefalia
Spanish Macrocefalia NEOM, Macrocefalia, macrocefalia (trastorno), macrocefalia, macrocéfalo
Japanese 巨頭症, 巨頭症NOS, キョトウショウ, キョトウショウNOS
Czech Makrocefalie NOS, Makrocefalie, makrocefalie, macrocephalus, makrocefalus
Korean 대두증
Russian МАКРОЦЕФАЛИЯ, MEGATSEFALIIA, МЕГАЦЕФАЛИЯ, MAKROTSEFALIIA
Hungarian Macrocephalia k.m.n., Macrocephalia
Polish Makrocefalia, Nadmierny rozrost czaszki, Wielkogłowie
Norwegian Makrocefali, Macrocefali
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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