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Case Reports

High myopia, hypertelorism, iriscoloboma, exomphalos, absentcorpus callosum, and sensorineuraldeafness: Report of a case andfurther evidence for autosomalrecessive inheritanceAvni Murat Avunduk1, Yakup Aslan2, Zerrin Kapıcıoglu1 andRüstü Elmas1

1Karadeniz Technical University, School of Medicine, Department ofOphthalmology and 2Karadeniz Technical University, School of Medicine,Department of Pediatry, Trabzon, Turkey

Key words: exomphalos – hypertelorism – myopia – sensorineural deafness.

Acta Ophthalmol. Scand. 2000: 78: 221–222Copyright c Acta Ophthalmol Scand 2000. ISSN 1395-3907

Donnai and Borrow (1993) describedtwo unrelated female and male pa-

tients with an identical syndrome of dia-phragmatic hernia, exomphalos, hyper-telorism, agenesis of corpus callosum, se-vere sensorineural deafness, and severemyopia. One of the described childrenalso had an iris coloboma. They con-cluded that these patients represented anew syndrome, because such co-occur-rence of the anomalies in a single patienthad not been reported before. We de-scribe a male child who shares identicalcharacters to the patients described byDonnai and Barrow.

Case ReportThe child was born prematurely by sectiocesarean operation. The parents of thechild are first cousins. Immediately afterdelivery, exomphalos and respiratory dis-tress syndrome were detected and thechild was transferred to the PediatryClinic of our hospital because of respir-atory distress syndrome. Surgery wasthen performed to correct his exompha-los. Evidence of intestinal malrotation

was not detected during the operation.The chromosomal analysis was normal(46, XY). Agenesis of corpus callosumwas detected by computerized tomo-graphy technique (Fig. 1). An ophthal-mologist performed ophthalmic exami-nation when the child was nine monthsold (AMA). The child was able to detectand trace light and object motions. Hehad a characteristic face with prominentforehead, aquiline nose, bilateral prop-tosis, deep-set ears, down-slanting pal-pebral fissures, and hypertelorism (innerintercanthal distanceΩ44 mm comparedto normal values between 28–35 mm),however, there was no evidence ofmetopic suture (Fig. 2). The chest X-rayexamination of the child was normalwithout any evidence of diaphragmatichernia or congenital heart defect. Theechocardiographic examination was alsonormal. Anterior segment examinationwas performed by slit lamp and revealeda right iris coloboma. Following cyclo-plegia with topical cyclopentolat drops,refraction examination was performedand bilateral high myopia was detected(e. g. –10 D for right and –11.5 D for lefteye). Ophthalmic ultrasound examination

revealed that the axial lengths of theglobes were 27.1 mm for the right eye and27.2 mm for the left eye. The optic nerveheads were hyperemic and had indistinc-tive margins. Both retinas of the child ap-peared lighter in color and thinner onretinal examination. The visual evokedcortical potentials (VEP) were recordedby flash stimulus and bilateral normal re-

Fig. 1. The agenesis of corpus callosum isclearly seen in computed tomography investi-gation.

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Fig. 2. The child has a typical face with hypertelorism, aquiline nose, down slanting palpebralfissures, right iris coloboma, and bilateral proptosis.

sponses were obtained. The patient’s his-tory was taken from the parents and indi-cated that some hearing problem couldbe present. Indeed, the evoked brainstemhearing potentials obtained by monoaur-al 90 dB stimuli could not induce any I-IV waves bilaterally. This finding is con-sistent with profound sensorineural deaf-ness.

CommentsThe co-occurrence of myopia and hyper-

telorism had been reported with a varietyof disorders including de Grouchy andCornelia de Lange syndromes (Izquierdoet al. 1993; Levin et al. 1990). However,our case shows completely different fea-tures from both of these syndromes.Manelfe and coworkers (1978) have re-ported the co-occurrence of a corpus cal-losum agenesis and hypertelorism, buttheir case also had transsphenoidal en-cephalocele that was not present in ourcase. Our case shares all of the character-istic findings of the cases reported byDonnai and Barrow (1993). Donnai andBarrow described two unrelated male andfemale patients with an identical syn-drome of diaphragmatic hernia, exom-phalos, hypertelorism, agenesis of corpuscallosum, severe sensorineural deafness,and severe myopia and one of them alsohad an iris coloboma. All of these fea-tures were also found in our case. How-ever, some additional findings are presentin our patient (e.g. aquiline nose and bi-lateral down slanting palpebral fissures),which are not consistent with the Donnaiand Barrow’s cases. Donnai and Barrowfollowed the subsequent pregnancies in

each family after the first affected childby ultrasound scan and further affectedfetuses were identified prenatally in bothfamilies. Gripp et al. (1997) described amale patient with the characteristics ofhypertelorism, wide anterior fontaneland metopic sutures, down slanting pal-pebral fissures, bilateral iris coloboma,omphalocele, and bilateral absence ofdiaphragm. They conclude that all find-ings in their case are consistent with thecases described by Donnai and Barrow.Gripp and coworkers could not give anyinformation about the hearing status oftheir patient, because he died in the im-mediate post-partum period because ofpulmonary hypoplasia caused by her-niation of abdominal organs to the tho-rax. Autopsy of the child also showed in-testinal malrotation, and they describeddown-slanting palpebral fissures as an ad-ditional feature of the syndrome that isconsistent with our case. However, somefeatures of the child described by Grippet al. did not present in our case (e.g.metopic suture and diaphragmatic her-nia). We believe that this may be due to aslightly different fenotipic expression ofthe same genetic defect. Holmes andSchepens (1972) described two patientswith ocular and facial anomalies, tele-canthus, and deafness. Gripp and co-workers believe that their case and thecases described by Donnai and Barrowhave the same disorder. Donnai and Bar-row (1993) and Gripp et al. (1997) sug-gest that this newly described syndromeis inherited by autosomal recessive in-heritance. The rationale for this sugges-tion is that the parents of the case re-ported by Gripp and coworkers were firstcousins. Since the parents of our patients

are also first cousins, our case providesfurther evidence for the previously postu-lated autosomal recessive inheritance pat-tern. We propose that our case report isa confirmation of the autosomal recessivesyndrome identified by Donnai and Bar-row and termed the Donnai-Barrow syn-drome by LDDB with the OMIN num-ber: 222448. The children affected by thisdisease seem to be at risk for infantileand juvenile retinal detachment becauseof high myopia and iris coloboma, sothey must be followed in this respect. Onthe other hand, from a general pediatricpoint of view, congenital heart disease,exomphalos, diaphragmatic hernia, andintestinal malrotation are important life-threatening phenotypic expressions.

ReferencesDonnai D & Barrow M (1993): Diaphragmatic

hernia, exomphalos, absent corpus callos-um, hypertelorism, myopia, and sensori-neural deafness: a newly recognized auto-somal recessive disorder? Am J Med Genet47: 679–682.

Gripp KW, Donnai D, Clericuzio CL, McDon-ald-McGinn DM, Guttenberg M & ZackaiEH (1997): Diaphragmatic hernia-exompha-los-hypertelorism syndrome: a new case andfurther evidence of autosomal recessive in-heritance. Am J Med Gen 68: 441–444.

Holmes LB & Schepens CL (1972): Syndromeof ocular and facial anomalies, telecanthus,and deafness. J Pediatr 81: 552–555.

Izquierdo NJ, Maumenee IH & Traboulsi EI(1993): Anterior segment malformations in18q-(de Grouchy) syndrome. OphthalmicPaediatr Genet 14: 91–94.

Levin AV, Seidman DJ, Nelson LB & JacksonLG (1990): Ophthalmologic findings in theCornelia de Lange syndrome. J PediatrOphthalmol Strabismus 27: 94–102.

Manelfe C, Starling-Jardim D, Touibi S, Bon-afe A & David J (1978): Transsphenoidal en-cephalocele associated with agenesis of cor-pus callosum: value of metrizamide com-puted cisternography. J Comput AssistTomogr 2: 356–361.

Received on July 19th, 1999.Accepted on December 4th, 1999.

Corresponding author:

Avni Murat AvundukKTÜ Lojmanlari No: 31/1761080 TrabzonTurkeyPhone: π90 462 3253011/5580Fax: π90 462 325 2270e-mail: avunduk/meds.ktu.edu.tr