The Question Mark Ear in Patients with Mandibular Hypoplasia

Abstract

Sir:FigureThe question mark ear is characterized by a cleft between the lower part of the helix and the earlobe, sometimes with a prominent upper pole of the pinna, and was first described in 1961.1 The term “question mark ear” was coined in 1970.2 Ear malformations and mandibular hypoplasia can occur together in oculoauriculovertebral spectrum (Online Mendelian Inheritance in Man no. 164210) (including craniofacial microsomia and Goldenhar syndrome), Treacher Collins syndrome (Online Mendelian Inheritance in Man no. 154500), Pierre Robin sequence, and auriculocondylar syndrome (Online Mendelian Inheritance in Man no. 602483). Auricular malformations in four patients with mandibular hypoplasia were reviewed. In case 1, an 11-year-old girl presented with bilateral question mark ears and micrognathia (Fig. 1). Her mother and sister both had a unilateral question mark ear. The patient underwent bilateral mandibular distraction and later ear reconstruction.Fig. 1: Case 1. An 11-year-old girl with bilateral question mark ears and micrognathia.In case 2, a 2-year-old boy presented with a left question mark ear, Pierre Robin sequence, micrognathia, and severe obstructive sleep apnea (Fig. 2). He successfully underwent bilateral mandibular distraction osteogenesis to improve his airway.Fig. 2: Case 2. A 2-year-old boy with Pierre Robin sequence, micrognathia, and a unilateral question mark ear.In case 3, a 3-month-old boy was referred with bilateral question mark ears and severe micrognathia requiring emergency tracheostomy at birth. He had macrostomia with a trifurcated, hypoplastic tongue and gingival hypertrophy. He required bilateral hearing aids. He underwent approximately 20 operations, including mandibular distraction osteogenesis, free fibula mandibular reconstruction, release of jaw ankylosis, temporomandibular joint reconstructions, tongue Z-plasty, release of floor-of-mouth adhesions, iliac bone graft to the anterior mandible, and further bilateral mandibular distraction. In case 4, a 14-year-old boy presented with a left question mark ear and micrognathia. He underwent bilateral vertical L-osteotomies of the mandible with interpositional iliac bone grafts, bilateral coronoidectomies, and alloplastic genioplasty. The question mark ear is rare. It can arise spontaneously or by means of autosomal dominant inheritance, with high intrafamilial variability.3 The cleft associated with the question mark ear can be explained as an arrest of fusion of the fifth (helical) and sixth (lobular) hillocks.4 The reason for any accompanying mandibular or condylar hypoplasia is unknown, but both structures arise from the first pharyngeal arch. The question mark ear is thought to be a diagnostic trait for auriculocondylar syndrome, described in 1978 in a mother and two sons with bilateral external ear malformations and mandibular hypoplasia.5 Condylar hypoplasia, temporomandibular joint abnormalities, microstomia, stenotic ear canals, and hearing loss are associated. Auriculocondylar syndrome has features that overlap with other first and second pharyngeal arch disorders, especially oculoauriculovertebral spectrum. The heart, kidneys, and spine should be evaluated: auriculocondylar syndrome is thought to be similar to Goldenhar syndrome but lacks vertebral anomalies. Expression of auriculocondylar syndrome is variable. Surgery aims to reduce size and prominence of the upper pole of the ear and to correct the cleft.3 The anomaly has been classified as moderate and severe.3 Rib or contralateral conchal cartilage grafts are used to correct cartilage deficiency.4 A V-Y flap from the posterior surface of the ear can be advanced to correct the skin deficiency.4 If a notch remains, a Z-plasty can realign tissue but makes the ear smaller.4 Transposition flaps with cartilage grafts are an alternative. Ear reconstruction should be delayed until after the mandibular deficiency has been corrected, especially if there are associated respiratory problems. Aina V. H. Greig, Ph.D., F.R.C.S.(Plast.) Silvio Podda, M.D. Charles H. Thorne, M.D. Joseph G. McCarthy, M.D. Institute of Reconstructive Plastic Surgery, New York University Langone Medical Center, New York, N.Y. DISCLOSURE The authors have no financial interest to declare in relation to the content of this article. PATIENT CONSENT Parents or guardians provided written consent for the use of the patient images.