Thursday, December 2, 2010

Hemifacial Microsomia

Every holiday season brings us news of thefts.   Sometimes followed up by good people stepping forward to restore or replace the item(s) stolen.  This year is no different.

Mid-November someone stole $8,000 from  a fundraiser held to raise money for a a New York City firefighter son.  Aidan Sullivan,  9 years old, was  born with hemifacial microsomia.  In Aidan’s case, this birth defect has left  one side of his face underdeveloped, deformed his jaw and skull and left him without a right ear.  (photo credit)

The Vincent Crotty Memorial Foundation  is replacing the money that was stolen.  The money is needed to offset the portion insurance doesn’t cover (deductible, family percentage, etc) which is estimated to be in the $10,000 to $15,000 range.  Aiden’s surgery is scheduled for this spring at NYU's Langone Medical Center in Manhattan.

Best wishes to you Aiden.

….

What is hemifacial microsomia? 

It is a developmental birth defect involving the first two branchial arches resulting in incomplete development of the ear, nose, soft palate, lip and mandible.  The syndrome varies in severity, but always includes the mal-development of the ear and the mandible. This is the second most common facial birth defect after clefts.

Hemifacial microsomia is also known as first and second branchial arch syndrome, craniofacial microsomia, oral-mandibular-auricular syndrome, otocraniocephalic syndrome, auriculobranchiogenic dysplasia, necrotic facial dysplasia, intrauterine facial necrosis, otomandibular dystosis, hemignathia and microtia syndrome, and unilateral facial agenesis.

Hemifacial microsomia syndrome is made up of a constellation of congenitally malformed facial structures which arise from the first and second branchial arches, the intervening first pharyngeal pouch and first branchial cleft.

Hemifacial microsomia is reported to occur in approximately 1 per 25-45,000 births.  Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance.

Hemifacial microsomia syndrome is most often not completely expressed.  If it were, the child would exhibit the following:

  • Unilateral or bilateral underdevelopment of the external ear, middle ear, mandible, zygoma, maxilla, temporal bone, facial muscles, muscles of mastication, palatal muscles, tongue, and parotid gland.
  • Macrostomia 
  • First branchial cleft sinus

The goals of surgery will depend on the child’s problems, but in general aim to improve facial symmetry and restore normal occlusion and TMJ joint function.

Common surgeries include:

  • lowering the upper jaw to match the opposite side and lengthening the lower jaw. Sometimes a bone graft is used to lengthen the jaw and sometimes a distraction device is used.
  • Ear reconstruction at about 5-6 years of age, involves 3 to 4 surgeries.
  • Occasionally, it may be necessary to add bone to build up the cheekbone.
  • Some children benefit from the addition of soft tissues to further balance the face.

 

Related posts

Microtia (September 14, 2007)

Constricted Ear Deformity (September 15, 2007)

 

 

REFERENCES

Craniofacial, Distraction Osteogenesis; eMedicine article, June 30, 2009; Pravin K Patel, MD, Marco F Ellis, MD, and Linping Zhao, PhD, MSE

The National Craniofacial Association

The First and Second Branchial Arch Syndrome; Plastic & Reconstructive Surgery: November 1965 - Volume 36 - Issue 5 - ppg 485-508

Syndromes of the First and Second Pharyngeal Arches: A Review; Am J Med Genet Part A 149A:1853–1859, 2009; Passos-Bueno MR, Ornelas CC, Fanganiello RD.

2 comments:

Aneesa said...

Thank you for sharing this educational post, this is great resource for those wanting to know more about the medicine. And it really is remarkable when someone steps up to right a wrong, I'm glad Aidan will be able to get his surgery.

Jackie said...

Hi,
Just wanted to say that I am so glad that Aidan was able to have his surgery.
I have an almost 14 year old son with hemifacial microsomia who used to look very much like Aidan! My son had jaw distraction surgery at 5 years, a BAHA inserted at 7 years and ear reconstruction (with rib cartilage) in a two stage process at 9 and 10 years of age. Living in NZ we are extremely lucky that all NZ children born with congenital defects are provided with free surgery by the best surgeons the country has to offer.
They have done a miraculous job, people who didn't know him before never even guess that he has hemifacial microsomia!
He still has one more 'big' surgery to correct his jaw when he stops growing but between now and then he (and I) are just cruising and enjoying life :)