Abnormalities of Pinna Flashcards
1
Q
Causes of Low Set Ears
A
- Potter’s renal agenesis
- Chromosomal abnormality:
Trisomy (Edward’s and Patau’s);
Cri-du-chat Syndrome;
Wolf Syndrome
2
Q
Malformed Ears ddx
A
Associated with renal abnormalities
- First Arch Syndrome:
Treacher-Collins; Goldenhar’s; Hemifacial Microsomia - Chromosomal abnormalities
Trisomy (Edward’s and Patau’s);
Cri-du-chat Syndrome; - Drug effect: (Fetal alcohol syndrome)
3
Q
Steps in clinical examination of low set/ malformed ears
A
- Face for Dysmorphism (including cleft lip/cleft palate - Trisomy)
- Limbs for chromosomal abnormalities (Polydactyly (Patau) Joint contactures/ Rocker Bottom foot - (Trisomy), Abnormal Dermatoglyphics (Cru-du-chat)
- Abdomen for kidney masses ((omphalocele- Trisomy) and bladder
- Look for Spinal deformities
- Measure BP
4
Q
First Arch Syndrome
- Similarities
A
Treacher-Collins; Goldenhar’s; Hemifacial Microsomia
Similarities -
- Eyes - Micophthalmia, anti-mongoloid slant, Coloboma iris
- Ear: Micortia (undeveloped pinna), absent external auditory meatus, Antitragal pits, supernumerary ear tags
- Mouth: Macrostomia, Mal-occulsion
5
Q
First Arch Syndrome
- Differences
A
Goldenhar
- Eye - Epibulbar
- Face - Unilateral facial hypoplasia
- Vertebra - Hemivetebra
- Mandible Ramus Hypoplasia (++)
- Pulmonary Hypoplasia (Nil)
- MD -(+)
- Others: Deafness
Treacher Collins
- Eye - Low eyelid dermoid, Upper eyelid Coloboma
- Face - Bilateral marked Malar Hypoplasia, Frontal bossing
- MD -(++)
- Others: AD, CHD
Hemifacial
- Eye - Coloboma
- Face - Unilateral Facial hypoplasia
- Mandible Ramus Hypoplasia (++++)
- Pulmonary Hypoplasia (++)
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
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
8
Q
Fetal Varicella Syndrome
A
- IUGR
- MD, Cortical atrophy, Epilepsy
- Eye- Chorioretinitis, maybe with Cataract, OA and Microphthalmia
- Limb - Hypoplastic with rudimentary digit, Cutaneous scar
Aetiology - Maternal Varicella at 18 to 19 week gestation
50% mortality