Abnormalities of Pinna

Question 1

Causes of Low Set Ears

Answer 1

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

Question 2

Malformed Ears ddx

Answer 2

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)

Question 3

Steps in clinical examination of low set/ malformed ears

Answer 3

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

Question 4

First Arch Syndrome

- Similarities

Answer 4

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

Question 5

First Arch Syndrome

- Differences

Answer 5

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 (++)

Question 6

Cri- du- chat Syndrome

Answer 6

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

Question 7

Wolf’s Syndrome

Answer 7

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

Question 8

Fetal Varicella Syndrome

Answer 8

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