Congenital anomalies Flashcards
[Gen/Anomalies/Basic]
Recurrence risks for most isolated major anomalies in percentage?
2-6%
[Gen/Anomalies/Basic]
Percentage of renal anomalies with ear malformation?
15%
[Gen/Anomalies/Basic]
Polydactyly least associated with genetic condition?
- Preaxial or postaxial
Postaxial polydactyly
[Gen/Anomalies/Basic]
Percentage of single umbilical artery as isolated finding?
30%
[Gen/Anomalies]
Name of anomaly?
Single central eye
a defective or absent nose and close-set eyes
Cyclopia
Cebocephaly
[Gen/Anomalies/Basic]
Conditions associated with single umbilical artery (4)
- Trisomy 18
- Renal anomalies
- Cardiac anomalies
- Twins
[Gen/Anomalies/Basic]
Genetic syndrome associated with omphalocele? (2)
- Beckwith-Wiedemann syndrome
- Trisomy 18
(Chromosomal analysis is indicated. Gastroschisis is not associated with chromosomal anomalies.)
[Gen/Anomalies/PRS]
Clinical triad of Pierre Robin sequence?
- micrognathia
- glossoptosis (cleft palate)
- upper airway obstruction (pulmonary hypertension)
[Gen/Anomalies/PRS]
Commonly associated syndrome with Pierre Robin sequence? (3)
- Stickler syndrome (m/c)
- 22q11 deletion (DiGeorge) syndrome
- Treacher Collins syndrome
[Gen/Anomalies/sequence]
Sequence associated with micrognathia, cleft palate, and glossoptosis?
Pierre Robin syndrome/sequence
[Gen/Anomalies/Sequence]
Potter syndrome and its presentation
P: ___
O: ___
T: ___
T: ___
E: ___
R: ___
P: Pulmonary hypoplasia
O: Oligohydramnios
T: Twisted Skin (wrinkly skin)
T: Twisted faces (low set, posteriorly rotated ears, micrognathia, retrognathia, hypertelorism, flattened nose)
E: Extremity deformities (club feet, joint contratures)
R: Renal agenesis (bilateral)
[Gen/Anomalies/VACTERL]
VACTERL association stands for?
Vertebral anomaly
Anal atresia
Cardiac defects
Tracheoesophageal fistula
Esophageal atresia
Renal anomaly
Limb defects
(Normal development, intelligence)
[Gen/Anomalies/VACTERL]
Isolated vs non-isolated percentages in Esophageal Atresia / Tracheoesophageal Fistula?
Isolated (40%)
Non-isolated (60%)
[Gen/Anomalies/CHARGE]
CHARGE syndrome stands for?
Coloboma
Heart disease
Atresia choanae
Restricted growth
Genital anomalies
Ear anomalies
[Gen/Anomalies]
Name of syndrome?
Choanal atresia, heart defects, growth retardation
CHARGE syndrome
[Gen/Anomalies/CHARGE]
Other symptoms of CHARGE syndrome? (2)
C Coloboma
H Heart defects
A Atresia choanae
R Retardation of growth
G Genitourinary anomalies
E Ear anomalies, deafness
- Cranial nerve dysfuction
Anosmia (CN1)
Facial palsy (CN7)
Hearing loss, balance problems (CN8)
Feeding difficulties (CN 9/10) - Hypogonadotropic hypogonadism
[Gen/Anomalies/CHARGE]
Ear malformation of CHARGE syndrome? (3)
- Helix hypoplasia (sinpped-off appearance)
- Ossicular malformation
- Temporal bone anormalities
[Gen/Anomalies/CHARGE]
Name of anomaly?
Helix hypoplasia (sinpped-off appearance)
[Gen/Anomalies/X-GBB]
Characteristics of X-linked Opitz G/BBB syndrome? (5)
- Facial anomalies
hypertelorism, prominent forehead, widow’s peak, broad nasal bridge, anteverted nares - Genitourinary abnormalities
hypospadias, cryptorchidism, and hypoplastic/bifid scrotum - Laryngotracheoesophageal defects
- Developmental delay and intellectual disability
- Cleft lip and/or palate
[Gen/Anomalies]
Diagnosis?
Abdominal muscle hypoplasia, aplasia
Bilateral cryptorchidism, urinary tract anomalies
Renal dysplasia
Oligohydramnios and pulmonary hypoplasia
Prune belly syndrome
[Gen/Anomalies/PHACE]
PHACE(S) syndrome stands for?
P
H
A
C
E
S
Posterior fossa abnormalities
Hemangioma
Arterial anmalies
Cardiac defects
Eye abnormalities
Sternal defects/supraumbilical raphe
