Face
forms between 4-8wks from 1st branchial
arch
Stomodeum membrane cannulates at 26d to communicate with pharynx
insufficient migration of neural crest cell into 1st arch causes abnormalities
1st arch abnormalities also associated with congenital heart defects
features identified by US by 10-11wks, face view best for lip view
Facial Clefts
most common abnormality of the fetal face
maxillary prominence fails to fuse with intermaxillary segment
1 in 1000 births, rises to 4% if sib affected
50% have assoc congenital abn, freq in tri 13 & 18
isolated cleft lip (25%): linear defect extending from nares through the lip lateral to midline. All seen on coronals
isolated cleft palate (25%): dificult to detect without cleft lip. see a linear defect through the maxilla with abnormal separation of the tooth buds
both cleft lip and palate (50%)
20% of the time is bilateral
Median Cleft - unusual form associated with holoprosencephaly showing markedly abnormal central facial development
Fetal Mandible
Midline sagital view demostrates best
Micrognathia associated with several 1st arch syndromes
Treacher Collins Syndrome ADom, slanted eyes, low ears
Goldenhar Syndrome pic hemifacial microsomia and microopthalmia
Fetal Orbits
can be measured but usually subjective
Hypotoelorism - associated with severe brain malformation
holoprosencephaly can result in cyclopia & proboscis
Maxillary Hypoplasia
caused by phenytoin
Frontal Bossing
Achondroplasia or craniosynostosis
Check extremities carefully if this is observed
Cystic Hygroma pic
abnormal connections of the lymphatic system
usually associated with chromosome abnormalities (Down's, Turner's)
will involute with advancing gestation with residual thickening resposible for web neck (ie Turner's)
amniocentesis is indicated
complex cystic mass surrounding the posterior neck and may extend over head and upper thorax
a midline septum (nuchal ligament) is always present and discriminates from occipital meningocele
fetal hydrops and diffuse cystic lymphagiectasis is common and associated with fetal demise
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Stomodeum membrane cannulates at 26d to communicate with pharynx
insufficient migration of neural crest cell into 1st arch causes abnormalities
1st arch abnormalities also associated with congenital heart defects
features identified by US by 10-11wks, face view best for lip view
Facial Clefts
most common abnormality of the fetal face
maxillary prominence fails to fuse with intermaxillary segment
1 in 1000 births, rises to 4% if sib affected
50% have assoc congenital abn, freq in tri 13 & 18
isolated cleft lip (25%): linear defect extending from nares through the lip lateral to midline. All seen on coronals
isolated cleft palate (25%): dificult to detect without cleft lip. see a linear defect through the maxilla with abnormal separation of the tooth buds
both cleft lip and palate (50%)
20% of the time is bilateral
Median Cleft - unusual form associated with holoprosencephaly showing markedly abnormal central facial development
Fetal Mandible
Midline sagital view demostrates best
Micrognathia associated with several 1st arch syndromes
Treacher Collins Syndrome ADom, slanted eyes, low ears
Goldenhar Syndrome pic hemifacial microsomia and microopthalmia
Fetal Orbits
can be measured but usually subjective
Hypotoelorism - associated with severe brain malformation
holoprosencephaly can result in cyclopia & proboscis
Maxillary Hypoplasia
caused by phenytoin
Frontal Bossing
Achondroplasia or craniosynostosis
Check extremities carefully if this is observed
Cystic Hygroma pic
abnormal connections of the lymphatic system
usually associated with chromosome abnormalities (Down's, Turner's)
will involute with advancing gestation with residual thickening resposible for web neck (ie Turner's)
amniocentesis is indicated
complex cystic mass surrounding the posterior neck and may extend over head and upper thorax
a midline septum (nuchal ligament) is always present and discriminates from occipital meningocele
fetal hydrops and diffuse cystic lymphagiectasis is common and associated with fetal demise
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