ch 58

The optimal gestational age for the NT is ____ weeks of gestation to ____ weeks ____ days of gestation. and fetal crown rump length should be within the range of __ to ___ mm

11,13,6 ; 45 to 84mm

ear malformations may be observed in _____ syndrome with anophthalmia (absent eye) and hemifacial microsomia

Goldenhars

achrondroplasia,chondrodysplasia puntata, asphyxiating thorcic dysplasia, and others

Limb skeletal defects that are associated with mid face hypo

inadequate development of the ear

Nager acrofacial dysostosis sydrome and treacher collins syndrome

small ears

Roberts syndrome

ocular hypotelorism, varialble bifid nose, broad nasal bridge, midline defect of the frontal bone, extension of the frontal hairline to from a widows peak

abnormalities of frontonasal dysplasia include

You should make sure adequate ____ surrounds the face to visualize it well

amitoc fluid

absent eyes

anophthalmia

the fetal nasal bone can be a predictor of ____

chromosomal anomalies

Micrognathia can be subdivided into three groups of anomalies:

chromosomal anomalies:trisomy 18 and triploidy, skeletal dysplasias, and primary mandibular disorders

The latest studies of Nuchal translucency thickness have attempted to delineate the exact role of this measurement as a screening tool for ________

chromosome anomalies

courses anteriorly through the upper lip and alveolus

cleft defect

masses of the nose and upper lip may distort the facial profile and indicate a _____

cleft lip

when both fusions are absent (lateral palatine and at the lip

cleft lip and palate occur

failure to fuse the primary and secondary palate resulting in

cleft lip cleft palate

1 per 150 to 1 per 250 births in Native Americans _____ occurs

cleft lip or palate

occurs when the lateral palatine processes fail to fuse at the midline.

cleft palate

this has been associated with numerous skeletal displasias

clover leaf skull

appears as an unusually shaped misshapen skull with a clover leaf appearance in the anterior view

clover leaf skull (kleeblattschadel)

appears a misshapened skill with clover leaf appearance, seen with limb and skeletal disorders(craniosynostosis)

clover leaf- skull

large gap in upper lip on modified coronal view, nose is flattened and widened, a premaxillary mass may be present

complete bilateral cleft lip and palate

view is best for imaging the cleft lip palate

coronal or axial view

abnormal closure of the cranial sutures

craniosynostosis

premature closure of any or all six of the cranial structures, causes the fetal cranium to become abnormally shaped

craniosynostosis

hypertelorism can be caused by exposure to ____

dilantin

tumors such as _____ or _____ may disrupt the facial contour in the sagittal plane

epignathus or teratoma(benign tumor)

obvious hypotelorism will be seen in ______ and ______ or may be so severe that a single orbit is demonstrated with a fused or single eye, as is seen in cyclopia.

ethmocephaly, cebocephaly

Masses of the orbit and of the eye may be excluded with careful scanning of the ____

eyes

most cases of micrognathia are detected from the subjective appearance of a small chin when imaging the _____

fetal profile

features of the fetal face can be identified at the end of the_____ trimester

first

may appear a lemon shaped skull or absent depressed nasal bridge; seen with open NTD

frontal bossing

median cleft face syndrome consisting of a range of midline facial defects involving the eyes, forehead, and nose.

frontonasal dysplasia

some ____ diseases may also exhibit macroglossia and organomegaly

glycogen

abnormal smallness of one side of the face

hemifacial microsomia

characterized by abnormally wide spaced orbits

hypertelorism

a condition characterized by decreased distance between the orbits

hypotelorism

it is associated with several syndromes and other anomalies including holoprosencephaly, microcephaly, craniosynostosis, and phenylketonuria

hypotelorism

measurements orbital width may identify fetuses with ______

hypotelorism

nose is intact, modified coronal view of lip

incomplete cleft

masses of the eye

introcular

the _____ view demonstrates the nasal bones, soft tissue and mandible

longitudinal

_____ set ears may be appreciated in a longitudinal or coronal view when placement of the ears appear lower than usual in many craniofacial malformations and syndromes

low

Tongue protrusion may suggest ______ or enlarged tongue

macroglossia

a condition found in Beckwith-Weidemann syndrome(congenital overgrowth of tissues)

macroglossia

any irregularities in the contour of the forehead should prompt the investigator to search for other

malformations

distortion of facial profile(look for cleft lip)

masses of nose and upper lip

well imaged in a true coronal plane

maxilla and orbits

caused by incomplete merging of the two medial nasal prominences at the midline

median cleft

congenital ___ should be suspected when a small chin is observed

micrognathia

under development of the jaw and cheek bones are associated conditions of _____

micrognathia

small eyes

microphthalmia

In the flat facies that this defect produces are more easily noted with coexting frontal bossing

midface hypoplasia or maxilary hypo

a depressed or absent nasal bridge with underdeveloped middle structures of the fetal face

midface hypoplasia or maxillary hypo

Use ____ scans through the face to asses facial profile

midsagittal

evaluation of the nasal triad should asses:

nostril symmetry, nasal septum integrity, continuity of the upper lip to exclude cleft lip and palate

The association of first trimester fetal _______ with aneuploidy is well established and is dependent on the size and extent of the nuchal abnormality

nuchal translucency

failure of maxillary prom to merge with the lateral nasal swelling, with exposure of the nasolacrimal duct

oblique facial cleft

strabismus, microphthalmia, divergence of lens, exophthalmia, and cataracts

ocular abnormalities

_____ is also a feature of the syndrome beck with-weidemann syndrome

organomegaly

The fetal ears may be imaged in a ____ plane or a ____ plane

parasagittal, coronal

masses of the orbit

periorbital

lacrimal duct cyst (dacryocystoceles) dermoids, and hemangiomas have been reported as _______

periorbital masses

hypertelorism is found in several abnormal fetal conditions, genetic syndromes and chromosomal anomalies. fetuses exposed to ______(dilantin) during pregnancy may manifest signs of hypertelorism

phenytoin

ear malformations are rarely predicted _____

prenatally

small ears and inadequate development of the ear may be observed ____

prenatally

micrognathia is best seen with the ____ view

profile

are the orbits normally spaced? are the nose and nasal bridge clearly imaged is a proboscis or cebocephaly present? Are any periorbital masses apparent? is the upper lip intact? Is the tongue normal size? Is the chin abnormally small? are the ears of normal size and in normal position?

questions for the monographer evaluating facial profile

Pierre robin syndrome and treacher collins syndrome are associated with a _______

small chin micrognathia

curvilinear surface with differentiation of forehead, nose, lips, and chin;

sono of facial profile

frontal bossing may be observed in a fetus with a lemon shaped skull from ______ or with ______

spina bifida, skeletal displasia

bulging of frontal bones and wide occiput

strawberry shaped cranium

an abnormally small chin my be so sever that polyhydraminos occurs because of the inability of the fetus to ____ or airway obstruction may be a complication of delivery

swallow

clover leaf skull has been associated with skeletal displasias _____ and ______ among others

thanatophoric displasia, ventriculomegaly

seen as small echogenic circles within the orbit

the lens of the eye

cleft lip with or without cleft palate represents:

the most common congenital anomaly of the face

the fetal profile is well imaged with _____ sono beginning late first trimester to early second trimester

transvaginal

____ view shows orbital anomalies and infraorbital distances useful to evaluate the maxilla, mandible, and tongue

transverse

premature closure of the metopic suture may cause the forehead to have an ____(tall) appearance in the sagittal plane and appear _____ in the axial plane

trigonocephaly,elongated,triangular

The fetal nasal bone may be absent with certain chromosome anomalies, particularly ______

trisomy 21

midface hypo may be seen on fetus's with chromosome abnormalities like ___,___,___

trisomy 21, craniosynostosis syndromes (Aperts syndrome) and limb and skeletal defects

incomplete fusion of maxillary prom to the medial prom on one side, modified coronal view

unilateral complete cleft lip and palate

the frequency of the cleft lip with or without cleft palate shows ethnic _____

variation

other anomalies associated with macroglossia (enlarged tongue) are __, and___

visceromegaly and omphalocele