Exam 3, deck 2 Flashcards
the study of congenital malformations and the recognition of patterns of malformations that occur in syndromes
Dysmorphology
condition in which head shape is shortened from the front to the back along the sagittal plane; the skull is rounder than normal
Brachycephaly
The lateral or medial angle of the eye formed by the junction of the upper and lower lids
Canthus
The fleshy tissue of the nose that separates the nostrils
Columella
Bony midline prominence of the brows
Glabella
The lateral flaring of the nostrils
Nasal alae
groove that extends from the margin of the nasal alae to the lateral aspects of the lips
nasolabial fold
increased distance between the pupils of the two eyes
Ocular hypertelorism
The shape of the eyes based on the outline of the eyelids
Palpebral fissure
The vertical groove in the midline of the face between the nose and the upper lip
Philtrum
Condition in which head shape is asymmetric in the sagittal or coronal planes; can result from asymmetry in the suture closure or from asymmetry of brain growth
Plagiocephaly
condition in which the head is elongated from front to back in the sagittal plane; most normal skulls are _________
Scaphocephaly
Scaphocephalic
Eyebrows that meet in the midline
Synophrys
A wide space between the medial canthi
Telecanthus
condition of having short digits
Brachydactyly
condition in which a digit is bent or fixed in the direction of flexion (trigger finger type appearance)
Camptodactyly
condition in which a digit is crooked and curves toward or away from adjacent digits
clinodactyly
an unusually small nail on a digit
hypoplastic nail
suffix meaning limb
melia
brachymelia - short limb
amelia - missing limb
the condition of having 6 or more digits on an extremity
polydactyly
the condition of having two or more digits at least partially fused (can involve any degree of fusion from webbing of skin to full bony fusion of adjacent digits
syndactyly
clinically significant abnormalities in either form or function that are identifiable at birth
congenital malformations
a spectrum of abnormalities including malformations, deformations, deformations and disruptions that result from the effects of a single malformation
malformation sequence
a primary malformation, the failure of growth of the mandible during the first weeks of gestation results in micrognathia which forces the normal sized tongue into an unusual position. This blocks the fusion of the palatal shelves causing a U shaped cleft palate. After delivery the normal sized tongue in smaller than normal sized oral cavity leads to airway obstruction which can be life threatening
Pierre Robin Sequence
triad of features in Pierre Robin sequence
micrognathia
U shaped cleft palate
obstructive apnea
Pierre robin sequence is an example of what genetic issue
malformation sequence
Individuals with Pierre Robin sequence may have it as a part of _______ syndrome
Stickler syndrome (AD disorder)
arise as a result of environmental forces acting on normal structures. They occur later in pregnancy or after delivery
Deformations
rhomboid shaped head
plagiocephaly
Plagiocephaly may result from intrauterine positioning or from torticollis experience in the newborn period. This is an example of __________
deformation
Deformations often resolve with minimal intervention but ______ often require surgical and medical management
malformations
variants of normal that occur in less than 3% of the population including findings such as transverse palmar creases, low set ears or ocular hypertelorism (wide spaced eyes). When isolated, no clinical significance
minor malformations
the recognizable pattern of anomalies that result from a single identifiable underlying cause.
multiple malformation syndrome
A ______ differs from a syndrome in that in the former, no single underlying etiology explains the recognizable pattern of anomalies that occur together more often than would be expected by chance alone
association
VACTERL association
what does this stand for
Vertebral anomalies
anal atresia
cardiac defects
tracheoesophageal fistula
renal anomalies
limb anamalies
infants born breech are more likely to have congenital ______ then born from vertex
malformations
As a woman gets older, there is increased risk of ______leading to trisomies
nondisjunction
An increased amount of amniotic fluid may be associated with what problems or anomalies
intestinal obstruction or CNS anomaly that leads to poor swallowing
An decreased amount of amniotic fluid may be associated with what problems or anomalies
chronic amniotic fluid leak or point to a Urinary tract abnormality that results in a failure to produce urine
Larger than expected size at birth may suggest an ______ syndrome such as
overgrowth syndrome
Sotos
Beckwith-Wiedemann syndrome
or maybe a diabetic mother
If the child is proportionate. Limbs that are too short for the head and trunk imply the presence of
a short-limbed bone dysplasia such as Achondroplasia
a trunk and head that are too short for the extremities suggest a disorder affecting the vertebrae such as
spondyloepiphyseal dysplasia
long and thin head shape
dolichocephalic
short and wide head shape
Brachycephalic
asymmetrical or lopsided head shaped
plagiocephalic
overt prominence of forehead
achondroplasia
part of face that extends from the eyebrows to the upper lip and from the outer canthi of the eyes to the commissures of the mouth
midface
distance between eyes
inner canthal distance
eyes that are too close together
hypotelorism
eyes that are too far apart
hypertelorism
short stature
intellectual disability
long palpebral fissures with eversion of lateral portion of lower lid
Kabuki syndrome
region of face that extends from ear to midface
malar region
low set ears are below a line drawn from the ____ ____ to the ______
outer canthus to the occiput
Posterior rotation of ears
means they are turned toward the rear of head
ears may be low set because
they are small (or microtic) or because
of a malformation of the mandibular region
region from the lower portion of the ears bounded out to the chin by the mandible
Mandibular region
when the chin is said to be slightly retruded, what does that mean
slightly behind the vertical line extending from the forehead to the philtrum
upward obliquity (slant) of the palpebral fissures seen in ______ and downward is seen in ?
Down syndrome
Treacher collins syndrome
neck webbing is a common feature seen in what two syndromes
Turner
Noonan
shield like chest is seen in what two syndromes
Turner
Noonan
Pectus deformity is common in what syndrome
Marfan
an inability to pronate or supinate the elbow is called what and occurs in
Radioulnar synostosis
fetal alcohol syndrome
X chromosome aneuploidy syndromes
Polydactyly is seen in what trisomy
13
Oligodactyly is seen in
fanconi anemia
