Congenital Anomalies Flashcards
Faranoff 30, 11th edition
congenital anomaly
an internal or external structural defect that is identifiable at birth; major or major
malformation
primary structural defect in tissue formation (neural tube defect, congenital heart defect); genetic or teratogenic factor
deformation
abnormal mechanical forces acting on otherwise morphologically normal tissues; clubfoot, altered head shape
disruption
destruction nor interruption of intrinsically normal tissue, usually affects body part not a specific organ
single gene / mendelian
limb anomalities
chromosomal disorder
Downs Syndrome, trisomy 18, trisomy 13. Klinefelter syndrome, Turner syndrome
dysmorphisms
anomalous external physical features
association
multiple congenital anomalities with no specific or common etiology: VATER, CHARGE
syndrome
recognized pattern of anomalities with specific, usually heritable cause: Holt-Oram syndrome, The Cornelia de Lange syndrome
etiology of malformations broad categories
genetic(multifactorial, single gene/Mendelian, or chromosomal), environmental/teratogenic, and unknown
genetic complex examples
congenital heart defects, neural tube defects, cleft lip and palate, clubfoot, congenital hip dysplasia; usually genetics and environmental
single gene/Mendelian examples
limb anomalities, Smith-Lemli-Opitz syndrome;
chromosomal examples
down syndrome/trisomy 21; trisomy 18, and trisomy 13; aneuplodidies of the sex chromosomes (Klinefelter syndrome or Turner syndrome)
chromosomal aberrations testing
karyotype, FISH, chromosomal microarray(CMA) ; WES
teratogen
anything external to the fetus that causes a structural or functional disability in prenatal or postnatal life
common teratogens
alcohol, anticonvulsants, some altered metabolic states in the mother, (DM, phenylketonuria), infections: TORCH(toxoplasmosis, syphilis, rubella, cytomegalovirus, and herpes simplex)
congenital anomalities goal of the physical examination
to determine whether an anomaly is isolated or to detect a recognizable pattern of malformation so that a specific etiologic determination can be made
genetics skin
trisomy 21, hypothyroidism, cornelia de Lange syndrome-marbling pattern called cutis marmorata; Cafe-au-lait spots: neurofibromatosis; edema and coarse skin
genetics hair
sparse hair: ectodermal dysplasia; hirsutism: cornelia de lange syndrome, FAS
genetics head
macrocephaly, microcephaly
dolichocephaly
increase in anteriorposterior diameter
brachycephaly
decrease in anteriorposterior diameter
plagiocephaly
assymetric head shape
hypotelorism
eyes too close together
hypertelorism
eyes too far appart
holoprosencephaly
trisomy 13; major malformation of CNS
epicanthal folds
normal, but also in trisomy 21
synophrys
fusion of the eyebrowns in the midline
microsTomia
small mouTh
macrosTomia
large mouTh
omphalocele
abdominal contents protrude through the umbilical opening
gastroschisis
isolated disruption in which the abdominal contents protrude through the periumbilical abdominal wall
dolichocephaly
increase HC diameter
craniotabes
soft or thinning bone; “ping-pong ball”; vitamin D deficiency
ankyloglossia
tonge tie
cystic hygroma
neck mass
sequence
pattern of multiple anomalies derived from a single known or presumed cause; example oligohydramnios sequence/Potter syndrome, Pierre Robin sequence
Potter syndrome
limb deformation, pulmonary hypoplasia, Potter facies (beaked nose, infraorbital creases, and simple ears
Pierre Robin sequence
microghathia, cleft palate, glossoptosis
VATER
vertebral abnormalities, anal artesia, cardiac anomalies, tracheoesophageal fistula, renal and radial (limb) dysplasia
CHARGE
coloboma, heart anomalies, choanal atresia, restriction of growth and development, genital and ear anomalies
Fluorescence in situ hybridization FISH
identify deletions in specific locations
chromosomal microarray
targets known microdeletion syndromes, subtelomeres, and pericentric regions
whole exome sequencing WES
evaluation of entire coding region of the genome
karyotype
first like test for suspected aneuploidy (trisomy 21, 18, 13, and Turner and Klinefelter syndromes
cutis marmorata / livedo reticularis
normal infant skin when exposed to cold temperatures; pattern may occur with trisomy 21, hypothyroidism, and Cornelia de Lange syndrome
Cafe-au-lait spots
characteristics of neurofibromatosis; 3+
macrocephaly
hydrocephaly and conditions affecting skeletal system
craniosynostosis
premature fusion of cranial sutures
coloboma
developmental defect in reference to en eye
microsomia
severely malformed pinna and an absent ear canal
macroglossia
big tounge
micrognathhia
small mandible
rhizomelia
proximal shortening of the limbs
mesomelia
shortening of the middle segment of the limb
acromelia
shortening of hands and feet
clinodactyly
incurving of the digit
acheiria
congenital absence of entire hand
acheiropodia
absence of two hands
ectrodyctaly
partial or total absence of distal segment of a hand or foot
polydactyly
partial or complete extra digit
syndactyly
fusion of the digits
bradydactyly
shortening of one or more digits
arachnodactyly
long, spiderlike digits
camptodactyly
irreducible flexion of the digits
chromosomal microarray CMA
first line of genetic testing in neonate with multiple anomalies
fluorescence in situ hybridization FISH
used for high level of suspicion for a known microdeletion syndrome
whole exome sequencing WES
testing of entire coding region or genome; testing of parental DNA included
biochemical testing
for metabolic malfunctions syndromes; example Smith-Lemli-Opitz syndrome,
