International Journal of Pediatric Otorhinolaryngology (2005) 69, 1575—1578

www.elsevier.com/locate/ijporl

CASE REPORT

Branchio-oculo-facial syndrome with theatresia of external ear

Ozcan Ozturk *, Abdurrahman Tokmak, Levent Demirci,Fatma Silan, Ender Guclu

Department of Otorhinolaryngology, Duzce Medical Faculty, 81010 Duzce, Turkey

Received 23 February 2005; accepted 14 April 2005

KEYWORDSBranchio-oculo-facialsyndrome;External ear atresia;Preauricular pit;Maxillar hypoplasia;Mandibular hypoplasia

Summary We report an 8-year-old child with branchio-oculo-facial syndrome. Heshowed atresia of external ear, preauricular pit, maxillar and mandibular hypoplasia,mild ptosis on the left side, lacrimal duct obstruction, unilateral branchial cyst,hypertrichosis of the neck, left foot showedmild syndactily of fourth and fifth toes anddental abnormalities. His mother had pseudocleft of the lip which led to the diagnosis.The importance of serial observations in patients with rare genetic disorders isemphasized.# 2005 Elsevier Ireland Ltd. All rights reserved.

1. Introduction

Previous reports branchio-oculo-facial syndrome(BOFS) have delineated a newly recognized auto-somal dominant branchio-oculo-facial syndrome ofpseudocleft of the lip, lacrimal duct obstruction,malformations of the ear and nose, linear skinlesions behind the ears, and variable presence ofcoloboma, microphtalmia, upslanting palpebral fis-sures, auricular pits, lip pits, high-arched palate,dental anomalies, sebaceos cysts of the scalp, pre-mature greying of the hair in adults, hand anoma-lies, growth retardation, and developmental delay[1—4]. Extracraniofacial malformations are uncom-mon. Neurodevelopment is usually normal although

* Corresponding author. Tel.: +90 5325988086;fax: +90 3805414105.

E-mail address: ozturko_70@yahoo.com (O. Ozturk).

0165-5876/$ — see front matter # 2005 Elsevier Ireland Ltd. All rigdoi:10.1016/j.ijporl.2005.04.013

retardation may occur. Autosomal dominant inheri-tance due to a single mutant gene is the likelyetiology suggested by several instances of verticaltransmission, including male-to-male transmission.No reported BOFS patients have had a chromosomeabnormality [5—7].

2. Clinical report

The patient is a 8-year-old boy born as the secondchild of a 32-year-old mother and 36-year-oldfather. The parents are not consangineous. Preg-nancy and terme delivery were normal. Birth para-meters were normal: weight was 4.400 kg andlength was 50 cm. The first child is a 11-year-oldgirl and the third child is a 2.5-year-old boy. Thesechildren were normal. He showed atresia of externalear, preauricular pit, maxillar and mandibular hypo-plasia, dental abnormalities, mild ptosis on the left

hts reserved.

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Fig. 1 Atresia of external ear, preauricular pit, maxillarand mandibular hypoplasia, mild ptosis on the left side.

Fig. 2 Hypertrichosis of the neck.

side, lacrimal duct obstruction, unilateral branchialcyst, left foot showed mild partial syndactily offourth and fifth toes, hypertrichosis of the neck(Figs. 1 and 2). Computed tomographic scans ofthe temporal bones showed aetresia of the externalear, tympanic cavity was not present, ossicularchain was not intakt and the pneumatization ofthe middle ear and mastoid bones was absent(Fig. 3). We observed normal inner ears and normalbilateral internal auditory canals. The patient hadonly bone conduction at the left ear. Hearing thresh-old of the right ear was within normal limits (Figs. 4and 5). Skeletal X-ray films, kidney ultrasonographyand haematoligical parameters were normal. Chro-mosomal examination on a peripheral blood lym-phocyte culture revealed a 46, Y, normal malekaryotype. His psychomotor development was bor-derline. His family members were also examinedand his mother had a pseudocleft of the lip (Fig. 6).

Fig. 3 The view of computed tomographic scan of thetemporal bone.

3. Discussion

Postauricular and cervical skin defects with or with-out sinus fistule have been reported as pathogno-

monic anomalies in the branchio-oculo-facialsyndrome [6]. Supra-auricular skin defects are lesscommon and mentioned to be present in 14% of thepatients. Craniofacial findings in BOFS patients arevariable and include broad nasal bridge, flattenednasal tip, sparse hair with premature graying, cleftlip the presence of a pseudocleft (54%). Also, the

Branchio-oculo-facial syndrome with the atresia of external ear 1577

Fig. 4 Normal odiologic diagram of the right ear.

Fig. 5 Odiologic diagram shows no air conduction on the left ear.

ophtalmological symptoms are variable: nasolacri-mal duct stenosis (74%), coloboma of the iris (46%)and micro-anophthalmia (62%). External earabnormalities with low-set posteriorly rotated pin-nae are found in 91%. Hearing loss is documented in37% of the patients [6]. Renal abnormalies and CNSmalformations are rare. Intelligence is usually nor-mal, although mild (33%) to severe (8%) mentalretardation may occur [6].

Some similarities with branchio-oto-renal (BOR)syndrome and branchio-oculo-facial syndrome havebeen observed. Both syndromes may have nasola-crimal duct stenosis, deafness, malformed pinnae,prehelical pits, renal anomalies, or developmentdelays [6]. Despite this apparent overlap, there islittle real phenotypic overlap. These conditionsshould not be confused. Unlike BOF syndrome,patients with BOR syndrome do not have the unusualerythematous, thin wrinkled skin defect of the neckor supra-infra-auricular area, cleft lip or pseudo-cleft and microphthalmia.

Legius et al. reported a family in which fatherand son had manifestations of both branchio-oto-renal and BOF syndromes. They suggestedthat both syndromes might be due to a singlegene with variable expression [8,9]. However, lippseudocleft and haemangiomatous fistulae with-out kidney anomalies are peculiar to the BOFsyndrome.

After evaluating the available findings we sus-pected a bronchio-otofacial syndrome. The find-ings of the patient was consistent with both BORand BOF syndromes. His family members were alsoexamined and his mother had a pseudocleft of thelip. So, BOR syndrome was excluded and the diag-nosis was established as BOF syndrome. In syndro-mic cases, some findings may be present in a familymember and not in patient him/herself. The find-ing of a pseudocleft of the upper lip in our patient’smother lead to the diagnosis. We believe thatexamination of the family members is essentialto avoid a misdiagnosis.

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Fig. 6 Patient’s mother with a pseudocleft of the lip.

References

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[9] E. Legius, J.P. Fryns, I. Van der Burgt, Dominant branchialcleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome, Clin. Genet. 37(1990) 347—350.