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2. Genetics > Congenital anomalies > Flashcards

Congenital anomalies Flashcards

1
Q

[Gen/Cong anomalies/Basic]

Recurrence risks for most isolated major anomalies in percentage?

A

2-6%

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2
Q

[Gen/Cong anomalies/Basic]

Percentage of renal anomalies with ear malformation?

A

15%

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3
Q

[Gen/Congenital anomalies]

Inheritance pattern of VACTERL association?

A

X-linked

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4
Q

[Gen/Congenital anomalies]

Commonly associated syndrome with Pierre Robin sequence? (3)

A
  1. Stickler syndrome (m/c)
  2. 22q11 deletion (DiGeorge) syndrome
  3. Treacher Collins syndrome
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5
Q

[Gen/Cong anomalies/Sequence]

Potter syndrome and its presentation
P: ___
O: ___
T: ___
T: ___
E: ___
R: ___

A

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)

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6
Q

[Gen/Cong anomalies/VACTERL]

VACTERL association stands for?

A

Vertebral anomaly
Anal atresia
Cardiac defects
Tracheoesophageal fistula
Esophageal atresia
Renal anomaly
Limb defects
(Normal development, intelligence)

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7
Q

[Gen/Cong anomalies/VACTERL]

Isolated vs non-isolated percentages in Esophageal Atresia / Tracheoesophageal Fistula?

A

Isolated (40%)
Non-isolated (60%)
- Syndromic
- VACTERL association

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8
Q

[Gen/Cong anomalies/VACTERL]

Genetic cause of VACTERL association?

A

FANCB

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9
Q

[Gen/Cong anomalies/VACTERL]

Vertebral anomalies of VACTERL association? (3)

A
  1. Hypoplastic vertebrae
  2. Hemivertebrae
  3. Scoliosis
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10
Q

[Gen/Cong anomalies/VACTERL]

Cardiac defects of VACTERL association? (3)

A

VSD
ASD
TOF

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11
Q

[Gen/Cong anomalies/VACTERL]

Renal anomalies of of VACTERL association? (3)

A
  1. Single umbilical artery
  2. Hypoplastic kidney
  3. Vesicoureteral reflux
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12
Q

[Gen/Cong anomalies/VACTERL]

Limb defects of of VACTERL association? (4)

A
  1. Hypoplastic thumb
  2. Polydactyly
  3. Syndactyly
  4. Radial aplasia
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13
Q

[Gen/Cong anomalies/VACTERL]

Amniotic fluid volume of of VACTERL association?

A

Oligohydramnios (renal defects)

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14
Q

[Gen/Cong anomalies/CHARGE]

CHARGE syndrome stands for?

A

Coloboma
Heart disease
Atresia choanae
Restricted growth
Genital anomalies
Ear anomalies

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15
Q

[Gen/Cong anomalies]

Name of syndrome?

Choanal atresia, heart defects, growth retardation

A

CHARGE syndrome

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16
Q

[Gen/Cong 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

A
  1. Cranial nerve dysfuction
    Anosmia (CN1)
    Facial palsy (CN7)
    Hearing loss, balance problems (CN8)
    Feeding difficulties (CN 9/10)
  2. Hypogonadotropic hypogonadism
17
Q

[Gen/Cong anomalies/CHARGE]

Ear malformation of CHARGE syndrome? (3)

A
  1. Helix hypoplasia (sinpped-off appearance)
  2. Ossicular malformation
  3. Temporal bone anormalities
18
Q

[Gen/Cong anomalies/CHARGE]

Name of anomaly?

A

Helix hypoplasia (sinpped-off appearance)

19
Q

[Gen/Cong anomalies/X-GBB]

[Cong anomalies]
Characteristics of X-linked Opitz G/BBB syndrome? (5)

A
  1. Facial anomalies
    hypertelorism, prominent forehead, widow’s peak, broad nasal bridge, anteverted nares
  2. Genitourinary abnormalities
    hypospadias, cryptorchidism, and hypoplastic/bifid scrotum
  3. Laryngotracheoesophageal defects
  4. Developmental delay and intellectual disability
  5. Cleft lip and/or palate
20
Q

[Gen/Cong anomalies/Basic]

Polydactyly least associated with genetic condition?
- Preaxial or postaxial

A

Postaxial polydactyly

21
Q

[Gen/Cong anomalies/sequence]

Sequence associated with micrognathia, cleft palate, and glossoptosis?

A

Pierre Robin syndrome/sequence

22
Q

[Gen/Cong anomalies/Basic]

Percentage of single umbilical artery as isolated finding?

A

30%

23
Q

[Gen/Cong anomalies/Basic]

Conditions associated with single umbilical artery (4)

A
  1. Trisomy 18
  2. Renal anomalies
  3. Cardiac anomalies
  4. Twins
24
Q

[Gen/Cong anomalies/Basic]

Genetic syndrome associated with omphalocele? (2)

A
  1. Beckwith-Wiedemann syndrome
  2. Trisomy 18
    (Chromosomal analysis is indicated. Gastroschisis is not associated with chromosomal anomalies.)
25
Q

[Gen/Cong anomalies]

Diagnosis?

Abdominal muscle hypoplasia, aplasia
Bilateral cryptorchidism, urinary tract anomalies
Renal dysplasia
Oligohydramnios and pulmonary hypoplasia

A

Prune belly syndrome

26
Q

[Gen/Cong anomalies]

Name of anomaly?

Single central eye
a defective or absent nose and close-set eyes

A

Cyclopia
Cebocephaly

27
Q

[Gen/Cong anomalies]

Characteristics of Gastroschisis compared to omphalocele

Covering membrane: ___
Location: ___
Association: ___
Treatment: ___

A

Covering membrane: No
Location: Right to the umbilicus
Association: Midgut volvulus
Treatment: immediate surgery

28
Q

[Gen/Cong anomalies]

Characteristics of omphalocele compared to Gastroschisis

Covering membrane: ___
Location: ___
Association: ___
Treatment: ___

A

Covering membrane: Yes
Location: midline
Association: congenital anomalies; BWS, T18
Treatment: staged surgery

29
Q

[Gen/Cong anomalies/Neph]

Which syndrome?

Infant onset nephrotic syndrome, mesangial sclerosis
XY gonadal dysgenesis
Wilms tumor

A

Denys-Drash syndrome

30
Q

[Gen/Cong anomalies/Neph]

Diagnosis?

Renal disease progresses to ESKD
Dystrophic nails
Hypoplasia or absence of the patellae, elbows, iliac horns

A

Nail-Patella syndrome

31
Q

[Gen/Cong anomalies/PHACE]

PHACE(S) syndrome stands for?
P
H
A
C
E
S

A

Posterior fossa abnormalities
Hemangioma
Arterial anmalies
Cardiac defects
Eye abnormalities
Sternal defects/supraumbilical raphe

2. Genetics (19 decks)

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