Abnormalities of Pinna Flashcards

1
Q

Causes of Low Set Ears

A
  1. Potter’s renal agenesis
  2. Chromosomal abnormality:
    Trisomy (Edward’s and Patau’s);
    Cri-du-chat Syndrome;
    Wolf Syndrome
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2
Q

Malformed Ears ddx

A

Associated with renal abnormalities

  1. First Arch Syndrome:
    Treacher-Collins; Goldenhar’s; Hemifacial Microsomia
  2. Chromosomal abnormalities
    Trisomy (Edward’s and Patau’s);
    Cri-du-chat Syndrome;
  3. Drug effect: (Fetal alcohol syndrome)
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3
Q

Steps in clinical examination of low set/ malformed ears

A
  1. Face for Dysmorphism (including cleft lip/cleft palate - Trisomy)
  2. Limbs for chromosomal abnormalities (Polydactyly (Patau) Joint contactures/ Rocker Bottom foot - (Trisomy), Abnormal Dermatoglyphics (Cru-du-chat)
  3. Abdomen for kidney masses ((omphalocele- Trisomy) and bladder
  4. Look for Spinal deformities
  5. Measure BP
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4
Q

First Arch Syndrome

- Similarities

A

Treacher-Collins; Goldenhar’s; Hemifacial Microsomia

Similarities -

  1. Eyes - Micophthalmia, anti-mongoloid slant, Coloboma iris
  2. Ear: Micortia (undeveloped pinna), absent external auditory meatus, Antitragal pits, supernumerary ear tags
  3. Mouth: Macrostomia, Mal-occulsion
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5
Q

First Arch Syndrome

- Differences

A

Goldenhar

  1. Eye - Epibulbar
  2. Face - Unilateral facial hypoplasia
  3. Vertebra - Hemivetebra
  4. Mandible Ramus Hypoplasia (++)
  5. Pulmonary Hypoplasia (Nil)
  6. MD -(+)
  7. Others: Deafness

Treacher Collins

  1. Eye - Low eyelid dermoid, Upper eyelid Coloboma
  2. Face - Bilateral marked Malar Hypoplasia, Frontal bossing
  3. MD -(++)
  4. Others: AD, CHD

Hemifacial

  1. Eye - Coloboma
  2. Face - Unilateral Facial hypoplasia
  3. Mandible Ramus Hypoplasia (++++)
  4. Pulmonary Hypoplasia (++)
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6
Q

Cri- du- chat Syndrome

A
Chromosomal lesion 5p
MD, Microcephaly
IUGR
Cat like crying
Face: Asymmetry round face, Anti-mongoloid slant, epicathic fold and Strabismus
Low set ears
Congenital Heart disease
Abnormal Dermatoglyphics
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7
Q

Wolf’s Syndrome

A
Associated with 4p
Face: Ocular Hypertelorism; Broad beak nose; Low set, simple ear, Pre-auricular Dimple
Maybe Cleft lip
Microcephy
IUGR
MR
Seizure
Limb and nail deformity 
Cryptorchism
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8
Q

Fetal Varicella Syndrome

A
  1. IUGR
  2. MD, Cortical atrophy, Epilepsy
  3. Eye- Chorioretinitis, maybe with Cataract, OA and Microphthalmia
  4. Limb - Hypoplastic with rudimentary digit, Cutaneous scar
    Aetiology - Maternal Varicella at 18 to 19 week gestation
    50% mortality
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