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68 Cards in this Set
- Front
- Back
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Cephaloceles are? |
Rise from frontal bone or midface. Sono: abnormal profile and facial angle. Maybe cause widely spaced orbits. (Hypertelorism.) |
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Encephalocele have been reported with? |
Amniotic band syndrome - amnion disrupts early in embryo period and strand of tissue within uterus may lead to malformation of fetus. |
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What’s craniosyntosis? |
Premature closure of any or all six of cranial structures |
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Craniosyntosis can cause the head to? |
Clover leaf skull. Also thanatophoric dysplasia can cause clover leaf skull or Ventriculomegaly. |
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What’s trigonocephaly? Can make the head appear like? |
Premature closure of the metopic suture. May can forehead to elongate and cause frontal bossing. Also frontal bossing is observed in fetus with lemon shaped skull from spina bifida Or with skeletal dysplasia. |
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Midface hypoplasia is? Seen in fetus with? |
Depressed or absent nasal bridge. Fetus with chromosomal anomalies, trisomy 21, craniosyntosis syndrome, achondroplasia, asphyxiating thoracic dysplasia. |
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Absent fetal nasal bone is a predictor for? |
Trisomy 21 |
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Frontal nasal dysplasia is a? Severe form of dysplasia causes? Common finding with frontal nasal dysplasia is? |
Median cleft syndrome. Involves eyes, forehead, nose. Severe causes two separate external mares with median cleft lip Hypertelorism. |
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Nuchal transluceny lets us know If there is? BHCG and PAPPA show higher rate than just NT measurement of? |
Chromosomal anomalies. Chromosomal anomalies |
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Abnormal NT is? If abnormal greater chance fetus will be affected by? |
> 3mm abnormal By chromosomal abnormalities or congenital heart disease. |
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Macroglossia is assoc with? |
Beckwith Weidmann syndrome |
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What is micrognathia? Associated with? Is small chin is so severe what can happen? |
Small chin. Trisomy 18, triploidy, skeletal dysplasia, Pierre robin syndrome. Polyhydramnios because the inability to swallow. |
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What is anopthalmia? What is hemifacial microsomia? Otocephaly is? |
Absent eye. Abnormal smallness of one side of face. Otocephaly absent of mandible cause the ears form to close together anteriorly and towards the neck. |
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Hypotelorism is? Associated with? |
Decreased distance between orbits. Midline abnormalities, holoprosencephaly, craniosyntosis, PKU, microcephaly |
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Hypotelorism is? Associated with? |
Decreased distance between orbits. Midline abnormalities, holoprosencephaly, craniosyntosis, PKU, microcephaly |
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Holoprosencephaly associated with? |
Trisomy 13 |
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Hypertelorism assoc with? |
Craniosyntosis, CNS, skeletal anomalies, frontal cephalocele |
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In Holoprosencephaly, what nasal anomalies assoc? |
Arhinia: absent nose Cepocephaly: single nostril nose with probiscis superior |
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With cleft lips unilateral and if isolated, it’s commonly on what side? |
Left side of face. |
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With cleft lips unilateral and if isolated, it’s commonly on what side? |
Left side of face. |
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Cleft lip thought you have multiple causes, such as? |
Chromosomal abnormalities, trisomy 13,18,21, triploidy, ABS, anencephaly, Holoprosencephaly, multiple pterygium syndrome. |
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What is the most common neck mass? |
Cystic hygroma colli (lymphatic obstruction) |
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Accumulation of lymph in fetal tissue results malformation of lymphatic system called? Usually rise from what side of neck? |
Cystic hygroma. Posterior 70% |
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Cystic hygromas are seen in what fetus? If Nuchal fold thick, assoc with? Normal Nuchal fold is? |
Turner syndrome. Trisomy 21, chromosomal anomalies. < 6mm normal |
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Cystic hygroma with Hydrops survive? |
100% mortality. |
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Cystic hygroma with Hydrops survive? |
100% mortality. |
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Anterior neck mass can be? |
Goitered symmetric, belobed Neck teratoma: usually unilateral and anterior. |
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What are the characteristics of spina bifida? |
Lemon shaped cranium, obliterated cisterna magna, open spinal defect |
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What are the characteristics of spina bifida? |
Lemon shaped cranium, obliterated cisterna magna, open spinal defect |
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What are the characteristics cephalocele? |
Open cranial defect, occipital skull base. Obliteration of cisterna magna, lemon sign sometimes. |
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What are the characteristics of spina bifida? |
Lemon shaped cranium, obliterated cisterna magna, open spinal defect |
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What are the characteristics cephalocele? |
Open cranial defect, occipital skull base. Obliteration of cisterna magna, lemon sign sometimes. |
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What are the characteristics Holoprosencephaly? |
Absent/ incomplete midline, single ventricular cavity, facial anomalies |
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What are the characteristics of spina bifida? |
Lemon shaped cranium, obliterated cisterna magna, open spinal defect |
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What are the characteristics cephalocele? |
Open cranial defect, occipital skull base. Obliteration of cisterna magna, lemon sign sometimes. |
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What are the characteristics Holoprosencephaly? |
Absent/ incomplete midline, single ventricular cavity, facial anomalies |
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What are the characteristics DWM? |
Midline posterior fossa cyst, defect in cerebellar vermis |
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What are the characteristics of Agenesis of Corpus Callosum? |
Absent CSP, elevated third ventricle, interhemispheric cyst/ lipoma |
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What are the characteristics of Agenesis of Corpus Callosum? |
Absent CSP, elevated third ventricle, interhemispheric cyst/ lipoma |
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What are the characteristics arachnoid cyst? |
Intracranial cyst with regular contour displacing/ compressing cortex |
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What are the characteristics Microcephaly? |
Small head |
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What are the characteristics vascular malformation? |
Fluid filled lesion with blood flow at Doppler exam |
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What are the characteristics porencephaly? |
Intracranial cyst with jagged outline often communicating with lateral ventricles. |
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Mc neural tube defect- absence of brain cause by failure of closure of neural tube cranial end. Partially develops. Absence of brain and cranial vault. |
Anencephaly |
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Absent cranial bones with presence of complete although abnormal development of cerebral hemispheres.has significant brain tissue. |
Acrania |
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Absent cranial bones with presence of complete although abnormal development of cerebral hemispheres.has significant brain tissue. |
Acrania |
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Acrania is assoc with? |
Spinal defects, lacks frog like appearance, cleft lip, ABS |
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Absent cranial bones with presence of complete although abnormal development of cerebral hemispheres.has significant brain tissue. |
Acrania |
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Acrania is assoc with? |
Spinal defects, lacks frog like appearance, cleft lip, ABS |
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Anencephaly has what sono appearance sign |
Frog like eyes |
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Absent cranial bones with presence of complete although abnormal development of cerebral hemispheres.has significant brain tissue. |
Acrania |
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Acrania is assoc with? |
Spinal defects, lacks frog like appearance, cleft lip, ABS |
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Anencephaly has what sono appearance sign |
Frog like eyes |
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Meninges alone or the meninges and brain herniate through a defect in the calvarium. What is this? |
Encephalocele |
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Herniation of the meninges and brain through the defect? |
Encephalocele |
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Protrusion of meninges? |
Meningocele |
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Protrusion of meninges? |
Meningocele |
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Meninges and neural elements protrude through defect |
Meningomyelocele |
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Lemon sign is not just associated with one but what others? |
Lemon sign is not specific for spina bifida, CNS malformation like encephalocele, non CNS like thanatophoric dysplasia. |
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Lemon sign is not just associated with one but what others? |
Lemon sign is not specific for spina bifida, CNS malformation like encephalocele, non CNS like thanatophoric dysplasia. |
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Strawberry skull relates to frontal bossing which assoc with which chromo anomaly? |
Trisomy 18 |
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DWM assoc with? |
Trisomy 13,18,21, maternal diabetes, congenital infection, macrocephaly, encephalocele |
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Combination of hypotelorism with probiscis with a normally placed nose with a single nostril? |
Cebocephaly |
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Combination of hypotelorism with probiscis with a normally placed nose with a single nostril? |
Cebocephaly |
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Consists severe Hypertelorism with probiscis superior to eyes? |
Ethmocephaly |
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Agenesis of the corpus callosum is assoc with? |
CNS malformations,hydrocephalus, DWM, Holoprosencephaly. |
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Characterized by destruction of cerebral hemispheres by occlusion of the internal carotid arteries. CSF destroys brain parenchyma |
Hydranencephaly |
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When ventriculomegaly occurs and causes enlarged head what’s dx? |
Hydrocephalus |
