Medical Diagnosis: Right Microtia (single finding)

A one month old female baby was diagnosed with Right Microtia. Baby was born after 35 weeks +3/7 of pregnancy, weight 2.340 Kg., to a 39 yr old mother, third delivery, fourth pregnancy. Mother is generally healthy, blood type A+.

Pregnancy-Spontaneous.Amniocentesis: normal chromosomes. Ultrasound scans: Organ Scan at 15 weeks - normal, besides 2 echogenic foci in the heart. Fetal echocardiography – normal. Oligohydramnios.

Rupture of membranes at delivery – clear fluid.

Delivery - C. Section due to breech presentation and Oligohydramnios.

Was born in a good general condition. APGAR score 9-1’ , 10-5’.

On Admission -good general state. Skin color - Pink. Vivacious, normal perfusion, saturation – 100%. Body temp 36.2°C, BP 93/42, HR 149 ,breathing rate – 25/m.

Phyisical examination:

Head: symmetric, head circumference 32.5 cm, length- 46 cm. Auricle of right ear is not developed.

Lungs: Breathing rate of 25, no retractions. Normal ventilation of both lungs.

Heart: normal heart sounds. Femoral pulse, bilateral – normal.

Abdomen examination: normal.

Neurological examination: Alert, reflexes are normal.

Genitalia – female, normal.

Limbs – wide spread, feet - normal.

In the nursery and on discharge :

Neurologically: normal. Normal examination on dismissal.

Head Ultrasound : normal

Respiratory: No respiratory disease. Discharged with normal room air saturation.

Cardiovascular: Thermodynamically stable throughout hospitalisation.

Echocardiography have demonstrated: small PFO.

Metabolically: Feeding from a bottle was initiated at day 1. Showed good absorption and weight gain.

Renal: normal during hospital stay. Renal function: Creatinine 0.88, Urea 12mg/ml. Renal ultrasound - normal

Jaundice: Bilirubin levels 11.7 mg% on the eighth day of life. Mother’s blood type A+, neonate A+, Coombs – negative.

Genetics by a genetic clinician : Microtia of right ear, left ear is normal, with no other dysmorphism. It seems like a single finding and not part of a syndrome. Echocardiography and renal ultrasound are normal. Eye examination is normal.

ENT: Rt. Microtia. complete hearing test is recommended, and if normal – postpone imaging to a later stage in life.

Liver function: normal

Haematology: complete blood count : Wbc-10,650, Plt – 433,000, Hct-63%.

Thyroid: tests were taken,no results yet.

Eyes: normal eyes test.

Hearing: Screening test was performed, passed in left ear. BERA - normal

The newborn was discharged at day 8 (36 weeks) in good general condition. Normal physical examination except Lt. Microtia.

Weight on discharge 2.188 Kg., head circumference 34 cm. length 46.7 , Hct – 54%.

Recommendations on discharge: ENT clinic (at 1 month), Cardiology clinic (at 4 months), Plastic surgery clinic (at 2 months), Child development clinic, ABR at Audiology clinic, Genetic clinic (at 3 months),Eye clinic (at 2 months).

Medical questions referred to Medical Opinion online doctor:

1) Are there any other diagnostic procedures needed ? When ?

2) Apart from the deformation is there any association to other defects?

3) At what age is it recommended to have a plastic repair?

4) Are there any places that can be recommended?

Medical Report given by the online doctor:

To: Medical Opinion, online medical consultation services:

The diagnosis of microtia given to this patient appears to be appropriate based on the description and pictures given to me by Medical Opinion services.

Microtia is a genetic malformation of the auricle which effects 1 in every 8,000 infants in the population occurring more often in right ears. Cause of microtia is unknown. In less than 15% a family history of similar lesions is reported. Most cases are isolated and unilateral. However, microtia may be associated with other congenital malformations. 30% of associated malformations involve facial clefts and cardiac defects. The patient does not have a facial cleft and she will be further investigated in the cardiology clinic. 14% may have anopthalmia or microthalmia. 11% may have limb reduction or severe renal malformations. Rarely, it may be associated with holoprosencephaly and various chromosomal aberrations.

The diagnostic procedures performed and ordered by the patient´s physicians appear appropriate. Consulting ENT, cardiology, plastic surgery, eye clinic, genetics, audiology and child development are all in order. It is important to emphasize the assessment of hearing in the left ear. Screening test was normal, a complete hearing test is recommended to test if hearing loss is bilateral or unilateral.

Ultrasound of the kidneys appears normal but I would recommend to follow the patient in Nephrology clinic to exclude the possibility of a malfunction which was not detected by ultrasound.

Finally, genetics will assess a possible association with a defined syndrome of chromosomal abnormality which seems unlikely in the patient´s case.

The technique of choice for the reconstruction of the microtia ear is the use of autogenous rib cartilage. Rib cartilage is sufficient for harvesting only after the age of 6 years old. Also, by that age the auricle has reached 95% of its adult size and the psychological impact does not become evident until the child reaches 7-10 years old. It is recommended to start these multistage surgeries at ages 6-10 years, most prefer 7- 8 years of age.

Other reconstructive techniques based on prosthetic materials can start earlier. They are preferred by only 11% of patients because of aesthetics, the need for frequent replacement, and high rate of failure.

Vast experience as well as good artistic abilities in reconstruction is very important in achieving a good final result. Recommendations for surgery site will follow.

Sincerely,

Professor MD, FRCPC