J Med Genet-1998-Devriendt-508-9.pdf
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58Med Genet 1998;35:508-509 Oto-onycho-peroneal syndrome: confirmation of a syndrome Koenraad Devriendt, Daniel Stoffelen, Rudolf Pfeiffer, Anita Leys, Jean-Pierre Fryns Centre for Human Genetics, University Hospital Leuven, Herestraat 49, B-3000 Leuven, Belgium K Devriendt J-P Fryns Department of Traumatology, University Hospital Leuven, Herestraat 49, B-3000 Leuven, Belgium D Stoffelen Department of Ophthalmology, University Hospital Leuven, Herestraat 49, B-3000 Leuven, Belgium A Leys Institut flir Humangenetik und Anthropologie der Universitat Erlangen-Nurnberg, Germany R Pfeiffer Correspondence to: Dr Devriendt. Received 12 September 1997 Revised version accepted for publication 28 November 1997 Abstract We report two sibs with a similar syn- drome of abnormal external ears, peculiar facial features, nail hypoplasia, a bilateral fibrous fusion of the outer third of the clavicle and the scapular spine, and the absence of a normal acromioclavicular joint. The present patients represent the fourth and fifth cases of the oto-onycho- peroneal syndrome (MIM 259780). (7Med Genet 1998;35:508-509) Keywords: nail hypoplasia; shoulder malformation; external ear; autosomal recessive Case reports The index patient of this family is a 41 year old female. At the age of 40 years, she was referred for progressive shoulder dysfunction, pain on movement, and limited motion. On inspection, the acromion appeared abnormal. A skin dim- ple was present on the dorsolateral side of the shoulder bilaterally. Radiographically, a bilat- eral, wide, bony, and fibrous fusion between the distal third of the clavicle and the spine of the scapula was observed, with absence of a normal acromioclavicular joint (fig 1). Examination under anaesthesia showed hyperlaxity of the shoulder and, on arthroscopy, dysplasia of the glenoid was detected. On further clinical examination, peculiar facial features were noted, with a prominent nose and a columella extending below the nasal alae (fig 2A). The palpebral fissures were relatively narrow. The ears were normally set, but large, with an unfolded helix and a prominent anthelix at the lower end (fig 2A). There was bilateral nail hypoplasia of the index fingers (fig 3). The nails of the first and second toes were dysplastic. She had grey hair from the age of 25 years, but no Figure 1 Radiograph of the left shoulder ofpatient 1 (front view). Note the wide, bony, and fibrous fusion between the distal third of the clavicle and the spine of the scapula with absence of a normal acromioclavicular joint. premature hair loss. The teeth were absent from the age of 23 years owing to caries. Clini- cally, there were no abnormalities of the other joints. Radiographs of the elbows, knees, and ankles were normal. Radiographs of the hands showed short terminal phalanges of the index fingers with prominent tufting. Radiographs of the feet showed hypoplasia of the middle phalanges of several toes and an abnormal shape of the first phalanx of the first toes, with a V shaped distal end. Biometry and intelli- gence were normal. Eye examination showed full vision with correction of mild astigmatism. The anterior segments appeared normal, with relatively flat anterior chambers and pupillary membrane residues in each eye. The horizontal diameter of the cornea was 11 mm (nor- mal value above 10 mm). Ultrasonographic measurement of axial length showed microph- thalmia: right eye 20.1 mm and left eye 19.9 mm (>2 SD below normal). The posterior seg- ments of the eyes were normal. Karyotype on white blood cells was normal 46,XX after G and T banding. The second patient is a younger sister of patient 1, aged 23. She has similar clinical fea- tures to her sister, with the same facial features and the same abnormal shape of the ears (fig 2B). She complained of minor shoulder pain without diminished mobility. Radiographs showed a similar malformation of the joint between the clavicle and scapula as seen in her sister. The nails of the index fingers and second toes were hypoplastic and the nails of several other fingers were equally poorly formed. Her hair was normal. She had several deciduous teeth. Biometry and intelligence were normal. Eye examination showed the same minor anomalies as seen in her sister, including relatively flat anterior chambers, bilateral pupillary membrane residues, relatively small corneas (horizontal diameter of 11 mm), and short eyes (axial length 20.5 mm in the right eye, 20.4 mm in the left eye). The eye fundus showed an unusual pattern of pigmentation with patchy depigmentation and enhanced visualisation of the choroid, which was most pronounced in the inferior section of the right eye. These two patients are from a sibship of 10 children. Two boys died during infancy, one from prematurity, the other from an unknown cause. They did not have nail or ear abnormali- ties. No other family members have ear, nail, or skeletal abnormalities. Patient 1 has three healthy, unaffected children. The parents are not known to be consanguineous, but originate from the same small village. 508 group.bmj.com on March 18, 2015 - Published by http://jmg.bmj.com/ Downloaded from
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Transcript of J Med Genet-1998-Devriendt-508-9.pdf
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58Med Genet 1998;35:508-509
Oto-onycho-peroneal syndrome: confirmation of asyndrome
Koenraad Devriendt, Daniel Stoffelen, Rudolf Pfeiffer, Anita Leys, Jean-Pierre Fryns
Centre for HumanGenetics, UniversityHospital Leuven,Herestraat 49, B-3000Leuven, BelgiumK DevriendtJ-P Fryns
Department ofTraumatology,University HospitalLeuven, Herestraat 49,B-3000 Leuven,BelgiumD Stoffelen
Department ofOphthalmology,University HospitalLeuven, Herestraat 49,B-3000 Leuven,BelgiumA Leys
Institut flirHumangenetik undAnthropologie derUniversitatErlangen-Nurnberg,GermanyR Pfeiffer
Correspondence to:Dr Devriendt.
Received 12 September 1997Revised version accepted forpublication28 November 1997
AbstractWe report two sibs with a similar syn-drome ofabnormal external ears, peculiarfacial features, nail hypoplasia, a bilateralfibrous fusion of the outer third of theclavicle and the scapular spine, and theabsence of a normal acromioclavicularjoint. The present patients represent thefourth and fifth cases of the oto-onycho-peroneal syndrome (MIM 259780).(7Med Genet 1998;35:508-509)
Keywords: nail hypoplasia; shoulder malformation;external ear; autosomal recessive
Case reportsThe index patient of this family is a 41 year oldfemale. At the age of 40 years, she was referredfor progressive shoulder dysfunction, pain onmovement, and limited motion. On inspection,the acromion appeared abnormal. A skin dim-ple was present on the dorsolateral side of theshoulder bilaterally. Radiographically, a bilat-eral, wide, bony, and fibrous fusion between thedistal third of the clavicle and the spine of thescapula was observed, with absence of a normalacromioclavicular joint (fig 1). Examinationunder anaesthesia showed hyperlaxity of theshoulder and, on arthroscopy, dysplasia of theglenoid was detected. On further clinicalexamination, peculiar facial features werenoted, with a prominent nose and a columellaextending below the nasal alae (fig 2A). Thepalpebral fissures were relatively narrow. Theears were normally set, but large, with anunfolded helix and a prominent anthelix at thelower end (fig 2A). There was bilateral nailhypoplasia ofthe index fingers (fig 3). The nailsof the first and second toes were dysplastic. Shehad grey hair from the age of 25 years, but no
Figure 1 Radiograph of the left shoulder ofpatient 1 (front view). Note the wide, bony,andfibrous fusion between the distal third of the clavicle and the spine of the scapula withabsence ofa normal acromioclavicular joint.
premature hair loss. The teeth were absentfrom the age of 23 years owing to caries. Clini-cally, there were no abnormalities of the otherjoints. Radiographs of the elbows, knees, andankles were normal. Radiographs of the handsshowed short terminal phalanges of the indexfingers with prominent tufting. Radiographs ofthe feet showed hypoplasia of the middlephalanges of several toes and an abnormalshape of the first phalanx of the first toes, witha V shaped distal end. Biometry and intelli-gence were normal. Eye examination showedfull vision with correction of mild astigmatism.The anterior segments appeared normal, withrelatively flat anterior chambers and pupillarymembrane residues in each eye. The horizontaldiameter of the cornea was 11 mm (nor-mal value above 10 mm). Ultrasonographicmeasurement of axial length showed microph-thalmia: right eye 20.1 mm and left eye 19.9mm (>2 SD below normal). The posterior seg-ments of the eyes were normal. Karyotype onwhite blood cells was normal 46,XX after Gand T banding.The second patient is a younger sister of
patient 1, aged 23. She has similar clinical fea-tures to her sister, with the same facial featuresand the same abnormal shape of the ears (fig2B). She complained of minor shoulder painwithout diminished mobility. Radiographsshowed a similar malformation of the jointbetween the clavicle and scapula as seen in hersister. The nails of the index fingers and secondtoes were hypoplastic and the nails of severalother fingers were equally poorly formed. Herhair was normal. She had several deciduousteeth. Biometry and intelligence were normal.Eye examination showed the same minoranomalies as seen in her sister, includingrelatively flat anterior chambers, bilateralpupillary membrane residues, relatively smallcorneas (horizontal diameter of 11 mm), andshort eyes (axial length 20.5 mm in the righteye, 20.4 mm in the left eye). The eye fundusshowed an unusual pattern of pigmentationwith patchy depigmentation and enhancedvisualisation of the choroid, which was mostpronounced in the inferior section of the righteye.These two patients are from a sibship of 10
children. Two boys died during infancy, onefrom prematurity, the other from an unknowncause. They did not have nail or ear abnormali-ties. No other family members have ear, nail, orskeletal abnormalities. Patient 1 has threehealthy, unaffected children. The parents arenot known to be consanguineous, but originatefrom the same small village.
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Oto-onycho-peroneal syndrome
Figure 2 (A) Profile ofpatient 1. (B) Profile ofpatient 2. Note the similarfeatures inboth sibs, with abnormal shape of the ears and nose, with the columella extending below tnasal alae. (Photographs reproduced with permission.)
DiscussionWe report two female sibs with the same clini-cal features including congenital nail hypopla-sia, dysmorphic facial features with distinct earanomalies, and a unique malformation of theshoulder joint.
This constellation of malformations bearsstriking resemblance to the abnormalities foundin a male patient reported by Leiba et all and twosibs described by Pfeiffer.2 All patients sharesimilar facial features, especially the malformedears. Nail hypoplasia involved several fingers andtoes in the patients reported by Pfeiffer,2whereas it was limited to the first or second toesand fingers in the present patients and thepatient of Leiba et al.'The skeletal abnormalities in the five pa-
tients described so far are diverse. In thepresent patients, a shoulder malformation wasthe major manifestation, but was also describedin the other patients; the clavicles were noted tobe abnormally straight in the patients ofPfeiffer,2 and the patient reported by Leiba etall also had a malformation ofthe lateral part ofthe clavicle and of the acromion. In the patientsreported by Pfeiffer,2 the clinical picture wasdominated by severe joint deformities, leadingto popliteal and inguinal pterygia and club feet.Hypoplasia of the proximal fibula was presentin the older sib, whereas in the younger patientthe fibula was absent, leading to the designa-tion "peroneal" of the oto-onycho-peronealsyndrome. The younger child has died but thecause of death is unknown to us. The older sibunderwent several orthopaedic interventionsand he finally succeeded in walking. His intelli-gence is normal.The patient reported by Leiba et all had nys-
tagmus and eye malformations, includingbilateral coloboma of the retina, left micro-cornea, and pupillary membrane residues.Interestingly, at the age of 8 years, eye examin-ation of the oldest patient reported by Pfeiffer2showed a hyperopic right eye with grey-greenmacula alterations. The left eye was amblyopicand showed similar macular alterations and aretinochoroidal coloboma. A detailed eyeexamination in the present patients showedonly minor changes, not associated with anyclinical problems.The oldest patient reported by Pfeiffer2 had
bilateral mixed hearing loss (with predominantperceptive hearing loss) of 60 dB; the youngerpatient could not be examined. Hearing wasnormal in the other patients.
This condition represents a clinically identi-fiable entity, characterised by a specific exter-nal ear malformation, nail hypoplasia, andvariable skeletal malformations. It may beassociated with deafness and eye manifesta-tions. The disorder is most likely autosomalrecessive, given the occurrence in sibs of bothsexes with normal parents, and in the casereported by Leiba et al' with consanguineousparents.
1 Leiba S, Griinebaum M, Savir H, Ber A. Oculootonasalmalformations associated with osteoonychodysplasia. BirthDefects 1975;11:67-73.
2 Pfeiffer R. The oto-onycho-peroneal syndrome. A probablynew genetic entity. EurJ Pediatr 1982;138:317-20.
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confirmation of a syndrome.Oto-onycho-peroneal syndrome:
K Devriendt, D Stoffelen, R Pfeiffer, A Leys and J P Fryns
doi: 10.1136/jmg.35.6.5081998 35: 508-509 J Med Genet
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