[Edward Treacher Collins (1862–1932), English surgeon and ophthalmologist at Moorfields Eye Hospital, London]

= MANDIBULOFACIAL DYSOSTOSIS

= autosomal dominant disease (with new mutations in 60%) characterized by bilateral malformations of eyes, malar bones, mandible, and ears resulting in birdlike face

Prevalence: 1÷50,000 births

Cause: defect in growth of 1^st + 3^rd branchial arches before the 7^th–8^th week of gestation

• NO limb anomalies (important DDx!)
• extension of scalp hair growth onto cheek; microstomia
• craniosynostosis
• narrowing of retropharyngeal space (apnea, speech difficulties)
• Eyes
  • antimongoloid eye slant (drooping lateral lower eyelids ← hypoplasia of lateral canthal tendon of orbicular muscle
  • sparse / absent eye lashes / coloboma in lower lids
  • egg-shaped orbits = drooping of outer inferior orbital rim
  • hypoplasia of lateral wall of orbits + shallow / incomplete orbital floor
• Nose
  • broad / protruded nose
  • choanal shortening
• Malar bone
  • sunken cheek ← marked hypoplasia / agenesis of zygomatic arches (= malar hypoplasia)
• Maxilla
  • hypoplasia of maxilla + maxillary sinus
  • narrow / overprojected maxilla
  • high-arched / narrow palate
• Mandible
  • retruded chin, retrognathism; dental malocclusion
  • pronounced micrognathia = mandibular hypoplasia with broad concave curve on lower border of body
• Ear
  • dysplastic low-set auricles; preauricular skin tags / fistulas
  • conductive hearing loss (common)
  • microtia with small middle ear cavity
  • deformed / fused / absent auditory ossicles
  • atresia / stenosis of external auditory canal

OB-US:

• polyhydramnios ← swallowing difficulty

Prognosis: early respiratory problems (tongue relatively too large for hypoplastic mandible)

Rx: surgical correction

DDx:

1. Goldenhar-Gorlin syndrome (unilateral microtia + midface anomalies, hemivertebrae, block vertebrae, vertebral hypoplasia, microphthalmia, coloboma of upper lid)
2. Acrofacial dysplasia (limb malformations)
3. Crouzon disease (maxillary hypoplasia with protrusion of mandible, hypertelorism, exophthalmos, craniosynostosis)