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Terms in this set (128)
absence of nose
group of disorders having in common the coexistence of an omphlocele macroglossia and visceromegaly
branchial cleft cyst
cystic defect that arises from the primitive brachial apparatus
protrusion of the brain from the cranial cavity
premature closure of the cranial sutures
cystic dilation of the lacrimal sac at the nasocanthal angle
teratoma located in the oropharynx
abnormal protrusion of the eyeball
fetal cystic hygroma
malformation of the lymphatic system that leads to single or multiloculated lymph-filled cavities around the neck
fetal goiter (thyromegaly)
enlargement of the thyroid gland(s)
abnormal smallness of one side of the face
congenital defect causedby an extra chromosome, which causes a deficiency in the forebrain
eyes too far apart
eyes to close
head smaller than body
increased thickness in the nuchal fold area (back of neck) associated with tosomy 21
underdevelopment of the eyes fingers and mouth
underdevelopment of the jaw that causes the ears to be located close together toward the front of the neck
hereditary disease caused by failure to oxidize an amino acid (phenulalanine) to tyrosine, because of a defective enzyme; if PKU is not treated early mental retardation can develop
Pierre Robin Syndrome
micrognathia and abnormally smallness of tongue usually with a cleft palate
a cylindrical protuberance of the face that in cyclopia or ethmocephaly represents the nose
eye disorder in which optic axes cannot be directed to the same object
Treacher Collins syndrome
underdevelopment of the jaw and cheek bone and abnormal ears
premature closure of the metopic suture
What can many anomalies of the face and neck be caused by?
maternal drug use
When does the embryo have characteristic external features of head and neck area int he form of a series of branchial arches, pouches, grooves and membranes?
in its 4th week
What are those structures referred to as?
How many branchial arches are there?
6 (but only 1st four are visible externally)
Each of the arches is separated by....
branchial grooves and composed of a core of mesenchymal cells
What does the mesenchyme form?
the cartilages, bones, muscles and blood vessels
What is the 1st arch branch also known as?
What does the 1st arch branch (mandibular arch) form?
the jaw, zygomatic bone, ear and temporal bone
What does the 2nd branchial arch contribute to?
the hyoid bone
What do the branchial arches consist of?
mesenchymal tissue derived from intraembryonic mesoderm covered by ectoderm and containing transderm
How do the maxillary prominences arise?
grow cranially just under the eyes and the mandibular prominence which grows inferiorly
By the 5th week of development what 5 prominences are identified?
frontal nasal prominence, forming the upper boundary of the stomodeum, the paired maxillary prominences of the 1st branchial arch, forming the lateral boundaries of the stomodeum and the paired mandibular prominences dorming the caudal boundry
How are the nasal pits formed?
as surface ectoderm thickens into the nasal placodes on each side of frontal nasal prominsence
Until 24 to 26 days of gestation...
the stomodeum is separated from pharynx by a membrane that ruptures by about 26th day to place primitive gut in communication with amniotic cavity
In what weeks do the mmazillary prominences grow medially?
between 5th and 8th weeks (toward midline. 2 medial nasal prominences & 2 maxillary prominences lateral to them fuse to form upper lip)
How many parts form the nose?
3 (bridge of nose originates from frontal prominence, the 2 medial nasal prominenves form the crest and tip of nose and the lateral nasal prominences form the side)
When do the mandibular prominences merge to form the lower lip, chin and madible?
end of the 4th to 5th week
when should the face be screened for coexisting facing malformation?
when there is a family history of craniofacial malformation or when another congenital anomaly is found
Many fetuses with a facial defect also have...
What is the ultrasound appearance of a facial anomaly?
heterogeneous and occur as isolated defects or as part of a syndrome
How is the forehead scanned for anomalies?
midsagittal scans through the face. fetal forehead appears as a curvilinear surface with differentiation of the nose, lips and chin seen inferiorly
What does this view allow?
diagnosis of anterior cephaloceles, which may arise from frontal bone or midface
What can anterior cephaloceles cause?
widely spaced orbits (hypertelorism)
What is amniotic band syndrome?
occurs when amnion disrupts early in embryonic period, leaving strands of tissue within the uterus that may lead to malformation of the fetus
What does craniosynostosis cause?
fetal cranium to become abnormally shaped
What is clover leaf skull?
appears as an unusually misshapen skull with a clover leaf appearance in the anterior view
What has clover leaf skull been associated with?
numerous skeletal dysplasias and ventriculomegaly
What does trigonocephaly cause?
the forehead to have an elongated (tall) appearance in sagittal plane and appear triangular shaped in the axial plane
What may be observed in a fetus with lemon shaped skull from spina bifida or with skeletal dysplasias?
What is midface hypoplasia?
underdevelopment of the middle structures of the face
When is midface hypoplasia seen?
in fetuses with chromosome anomalies, craniosynostosis syndromes, and limb and skeletal abnormalities.
When may the fetal nasal bone be small or absent?
certain chromosome anomalies particularly trisomy21
What is frontonasal dysplasia?
a median c left face syndrome consisting of a range of midline facial defects involving the eyes, forehead and nose
Abnormalities of frontonasal dysplasia?
ocular hypertelorism, a variable bifid nose, broad nasal bridge, midline defect of the frontal bone, and extension of the frontal hairline to form a widows peak
What is the optimal gestational age for the measurement of fetal nuchal translucency?
11 weeks of gestation to 13 weeks, 6 days of gestation
The fetal CRL should be within the range of....
It is important to adjust the depth and image magnification so that....
the head and upper torso compromise 75% of the image field
Where should calipers be placed when measuring nuchal translucency?
on borders of the nuchal translucency and not in the nuchal fluid area
What is an abnrmal measurement for nuchal translucency?
great than 3mm is abnormal and the thicker the fetal NT is above 3mm the greater the chance of the fetus being affected by a chromosome anomaly or other defects such as congential heart disease
Whay may distort the facial profile and indicate a cleft lip?
masses of the nose and upper lip
What may tongue protrusion suggest?
What is macroglossia?
an enlarged tongue (a condition found in beckwith-wiedmann syndrome-congential over growth of tissues)
What is suspected when a small chin is observed?
How is mandubular width measured?
in axial plane laterally from rami to rami
How is mandibular length or AP diameter assessed?
measuring from the mentum of the mandible to the bisection of the lateral width line
What is another way of diagnosing micrognathia?
AP Diam/BPD X100. Index of 21 or less yielded a 100% positive predictive value
An abnormally small chin may be so severe that...
polyhydramnios occurs because of the inability of the fetus to swallow and airway obstruction may be a complication at delivery
How are the fetal ears imaged?
in parasagittal plane or in a coronal plane
When may ear malformation be observed?
goldenhar's syndrome with anopthalmia and hemifacial microsomia
Are small ears and inadequate development of the ear ovserved prenatally?
What is otocephaly
rare anomaly where absence of the mandible causes the ears to form close together anteriorly and toward the neck
Orbital distance measurements are helpful in the diagnosis of...
fetal conditions in which hypotelorism or hypertelorism is a feature
What is hypotelorism?
a condition characterized by a deccreased distance between the orbits
What is hypotelorism associated with?
several syndromes and other anomalies including holoprosencephaly, microcephaly, craniosynostosis and phenylketonuria
What is hypertelorism?
abnormally wide spaced orbits
When is hypertelorism found?
several abnormal fetal conditions, gentic syndromes and chromosomal anomalies
Fetal hypertelorism may be diagnosed by...
orbital distances that fall above normal ranges for gestational age
The nose, maxilla, lips and palate may be viewed by....
placing the transducer in a lateral coronal plane, sagittal profile plane and in modified tangential maxillary view or modified coronal view
In the lateral coronal view....
the integrity of the nasal structures in relationship to the orbital rings and maxillae is studied
In profile plane the contour of....
the nose, upper and lower lips and chin is observed
Tangential cuts (angled inferiorly to superiorly through maxilla)....
demonstrate the nasal septum and nostril openings or nares
What should be assessed in the evaluation of the nasal triad?
1) nostril symmetry
2) nasal septum integrity
3) continuity of the upper lip to exclude cleft lip and palate
What is the most common congenital anomaly of the face?
How often does cleft lip occur?
1 per 600 in caucasuans, 1 per 3000 in african americans, 1 per 350 in asians, and 1 in 500 ti 1 per 250 in native americans
When does cleft lip occur?
failure to fuse the primary and secondary palate resulting in a cleft defect coursing anteriorly through the upper lip and alveolus
When does a celft palate occur?
when the lateral palatine processes fail to fuse in the midline
When does cleft lip and palate occur together?
when both fusions are absent
What does a facial cleft involve?
only upper lip or may extend to involve the alveolus, posterior hard palate and soft palate
How many congenital malformations of the oral cavity exist?
What is an epignathus?
a teratoma located in oropharynx. may be highly complex and contain solid, cystic or calcified components
In fetuses with epignathus....
swallowing may be impaired, resulting in hydramnios (in these cases a small stomach may be present)
Congenital anomalies of the neck....
are rare but when present may represent life threatening disorders
Neck masses are...
usually large and obvious because their presence causes distortion of the neck contour and adjacent structures
What is the most common neck mass?
cystic hygroma colli (lymphatic obstruction)
What are rarer lesions?
cervical meningomyelocele, hemangiomas, teratomas, goiter, sarcoma and metastatic adenopathy
Are branchial cleft cysts prenatally detectable?
When a large tumor exists....
delivery of the infant is complicated because the tumor may cause delivery dystocia and obstruction of the airway which may require an exit procedure at delivery
What does a goiter observed prenatally suggest?
that the mother may have thyroid disease
What is there a high risk for when cystic hygroma is found?
Medican cleft lip
caused by incomplete merging of the 2 medial nasal prominences in the midline
Oblique facial cleft
failure of maxillary prominence to merge with the lateral nasal swelling with exposure of the nasolacrimal duct
Complete bilateral cleft lip and palate
large gap in upper lip on modified coronal view; nose is flattened and widened, a premaxillary mass may be present
Unilateral complete cleft lip and palate
incomplete fusion of maxillary prominence to the medial prominence on one side; modified coronal view
nose is intact; modified coronal view of lip
What does fetal cystic hygroma result from?
malformation of the lymphatic system that leads to single or multiloculated lymph filled cavities around the neck
What does failire of the lymphatic system to properly connect with the venous system result in?
distention of jugular lymph sacs and the accumulation of lymph in fetal tissue
This abnormal collection of lymph causes....
distention of the lymph cavities, which may lead to fetal hydrops and even fetal death
What do cystic hygromas present as?
isolated small cystic cavities with or without septations
If the posterior neck skin appears thick without significant fluid filled areas this may represent...
a thickened nuchal fold seen with outher chromosome anomalies such as trisomy 21 (this area should be measured in a suboccipital bregmatic view between 15 and 21 weeks)
What measurement is considered abnormal?
a measurement that is 6mm
What is the ultrasound appearance of large fetal cystic hygromas?
bilateral large cystic masses at theposterolateral borders of the neck that may in sever cases surround the neck and head and upper trunk. typically a dense midline septum divides the hygroma with septations noted within the dilated lymph sacs
Cystic hygroma with fetal hydrops...
carries 100% mortality
Heart failure commonly results in...
What are the differential considerations for cystic hygroma?
meningomyelocele, encephalocele, nuchal edema, branchial cleft cyst, cystic teratoma, hemangiomas and thyroid cysts
What is the ultrasound appearance of fetal goiter?
a symmetrical, solid, homogeneous mass arising from anterior fetal neck in the region of the fetal thyroid gland
When a goiter is suspected...
the fetus may be either hypothyroid or hyperthyroid
If fetus is found to be hypothyroid...
then intrauterine fetal therapy may involve the weekly instillation of thyroxine via amniocentesis or may result in the increase of maternal medication for the hyperthyroid fetus because these drugs cross the placenta very readily
Neck teratomas are usually....
unilateral and usually located anteriorly
The neck is often difficult to assess when...
amniotic fluid is decreased when the fetus is in an unfavorable position or when the neck is in close proximity to the placenta
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