7 Med Genet 1991; 28: 786-790

Microtia and short stature: a new syndrome

Brian Cohen, I Karen Temple, John C Symons, Christine M Hall, Donald G Shaw,Manjit Bhamra, Andrew M Jackson, Marcus E Pembrey

AbstractBilateral microtia, absent patellae, short stat-ure, poor weight gain, and characteristicfacial features are described in two femalesibs. Other skeletal anomalies included com-plete habitual dislocation ofthe elbow, slenderribs and long bones, abnormal modelling ofthe glenoid fossae with hooked clavicles, andclinodactyly. Bone age was significantlydelayed and there was flattening of the epi-physes. This unusual combination of featureshas many similarities to the syndrome de-scribed by Hurst et a].

In 1988 Hurst et all described two unrelated maleswith small ears, short stature, absent patellae, char-acteristic facial features, and skeletal anomalies. Theboys were matched through the London Dysmor-phology Database 'unknowns' group. Both boys hadin addition unusual and similar radiographic find-ings. In particular, there were flat, abnormallymodelled glenoid fossae with dislocation of theradial heads and hooked clavicles. Bone age wasmarkedly delayed with abnormal epiphyses in bothchildren. The two boys differed in that the secondboy died at 4 days of age and was found to have anatrial septal defect, small adrenal glands, and bilat-eral hydronephrosis, while the other remained wellaged 4j years but was found to have an IQ of 60 andcraniosynostosis.

These boys share many features in common withtwo female sibs seen recently in the genetic clinic(fig 1). Both girls had a syndrome distinguishedfrom other genetic causes of short stature by thepresence of marked microtia. In addition there wasa characteristic facial appearance with a smallmouth and small pointed chin, as seen in thepatients of Hurst et al.' The radiographic findingswere unusual and remarkably similar to those de-scribed including the abnormal modelling of theglenoid fossae in one sib. The syndrome isexpanded by this case report and the possibility ofrecessive inheritance is raised by the presenceof two affected sisters. We suggest this syndromecould be called the Ear, Patella, Short staturesyndrome (EPS).

Case reportsCASE 1The proband was born to unrelated Caucasian par-ents aged 26 years of age. The pregnancy was

Department of Orthopaedics, University CollegeHospital, London.B Cohen, D G Shaw, M Bhamra, A M Jackson

Mothercare Department of Genetics, Institute ofChild Health, 30 Guilford Street, London WClN1EH.I K Temple, M E Pembrey

Department of Paediatrics, Colchester GeneralHospital, Colchester, Essex.J C Symons

Department of Radiology, Hospitals for SickChildren, London.C M HallCorrespondence to Professor Pembrey.

Figure 1 The sibs aged 7 years and 4 years. Note thesmall stature, slight build, and similar facial appearance.

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Received for publication 21 January 1991.Accepted for publication 19 February 1991.

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Microtia and short stature: a new syndrome

uncomplicated and the delivery normal. At birth,weight was 2400 g (3rd centile), length 48 cm (10thcentile), and head circumference 34-7 cm (50th cent-ile). She was noted to have bilaterally small, simpleears. There were early feeding problems with slowweight gain. Motor milestones were slightlydelayed. She sat at 8 months, crawled at 1 year, andwalked at 17 months. Speech was initially slowerthan her contemporaries but at the age of 7 years sheattends a normal school and is doing well. She has amild conductive deafness thought to be secondary tomiddle ear fluid. An operation to insert grommetsproved unsuccessful owing to the small size of theear canal.On examination aged 7 years, height was

111 5 cm (1Oth centile), sitting height was 61 cm(-2 SD below mean), subischial leg length was50-5 cm (-05 SD below mean), head circumfer-ence was 48-9 cm (3rd centile), and weight was13-7 kg (4 3rd centile). Her ears had remainedsmall. Both ears measured 30mm (50th centile forage 57 mm). The right ear is shown in fig 2. She hada small, triangular shaped face with a small mouthand jaw and a low anterior hairline (fig 3). Thepalate was high and the teeth crowded. The skinappeared thin and she had prominent veins over thenose and forehead. There was clinodactyly of bothlittle fingers. Hair and nails were normal as was therest of the examination except for non-palpablepatellae.

Investigations included a full skeletal survey. Thisshowed delay in bone maturation of the phalangealepiphyses of at least 12 months with marked delay inossification and flattening of the other larger epi-physes. The patellae could not be seen. The longbones and ribs were slender. There were flat, abnor-mally modelled glenoid fossae with odd, hookshaped clavicles. The femoral necks were long andthe iliac wings narrow. She had a normal femalekaryotype.

CASE 2The proband's sister was born after a normal preg-nancy at term. Birth weight was 2200 g (< 3rdcentile), length 47 cm (3rd to 10th centile), andhead circumference was 32-5 cm (-2 SD belowmean). Bilateral microtia with small ear canals wasnoted at birth. Again there were early feedingdifficulties and poor weight gain. She sat at 7months, crawled at 11 months, and walked at 13months. She was slightly slow with speechalthough hearing was normal. She was, however,developing appropriately for her age at 4 years andattending a normal nursery school. On examinationaged 4 years, height was 89 cm (<3rd centile),sitting height was 51-5 cm (-3 SD below mean),subischial leg length was 37 cm (-2 SD below

Figure 2 (Top) Right ear of case 1 aged 7 yearsmeasuring 30mm and (bottom) right ear of case 2 aged 4years measuring 24 mm. Note they are small and simple.

mean), head circumference was 47-3 cm (< 3rdcentile), and weight was 8 6 kg (< 3rd centiledespite a voracious appetite). Ear length on theright was 24 mm (fig 2) and on the left was 18 mm.The ears were simple and folded. The externalauditory meatus was small but patent, and hearingwas normal. She had similar facial features to hersister as shown in fig 1. Her mouth was small. Theskin was again noted to be thin particularly over thenose and the veins were prominent. She had clino-dactyly of the little fingers but the hands and nailswere otherwise normal. In extension she couldpainlessly, habitually, dislocate both elbows whichspontaneously reduced in flexion. No patellae werepalpable but other joints were normal with nohyperextensibility. The feet were long and thin.

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Cohen, Temple, Symons, Hall, Shaw, Bhamra, Jackson, Pembrey

Figure 3 Case I aged 7 years to show her facialappearance. She has a small, triangular face and pointednose.

A skeletal survey, performed at 10 months of age,showed marked delay in epiphyseal ossification.The upper tibial epiphyses which are normally seenat 34 weeks' gestation remained unossified. Thepatellae could not be seen. There were slender longbones and ribs as seen in her sister. Aged 4 yearselbow dislocation was confirmed on fluoroscopyand unusually there was dislocation at both theradio-humeral and ulnar-humeral joints (fig 4). Atthis age there was also a genu valgum deformitywith retarded maturation (corresponding to only 15months of age) and the epiphyses were flattened(fig 5).

DiscussionBoth sibs in this report have markedly small earsnoted at birth, a similar facial appearance with asmall mouth and jaw, and poor weight gain. Heightis below the 3rd centile in case 2 and on the 10thcentile in case 1 but in both sibs height velocity isprogressing normally. The skeletal survey showsmarked delay in bone age in both girls, flattenedepiphyses, and slender long bones and ribs. Thepatellae are absent. The elbow dislocations in case 2are unusual in that there is dislocation at the ulnar-humeral joints as well as the radio-humeral joints.Case 1 also has flattening of the glenoid fossae andunusual, hook shaped clavicles. This combinationof features in female sibs it similar to that reported

Figure 4 Radiograph of the left elbow of case 2 inextension showing dislocation of ulnar-humeral andradio-humeral joints.

by Hurst et all (table). Most striking is the associ-ation in all four patients of small ears, absentpatellae, and short stature with similar radio-graphic findings. The sibs in this report differ inthat their skull radiograph is normal and there is nodevelopmental delay.Other syndromes described with microtia and

short stature were considered but thought to differfrom the girls in this report. The coxoauricularsyndrome,2 consisting of dislocation of the hips,spondylosis, and variable microtia, is excluded inthat the pelvis is severely deformed in these childrenunlike the sibs in this report.There are features in common with other short

stature syndromes. The 3M syndrome is character-ised by short stature with minor associated skeletalfindings including dislocation of the elbow andradiographic evidence of slender bones and tallvertebrae. Facial features differ in that patients havefrontal bossing, a fleshy nasal tip, and upturnednares. Ears are sometimes prominent in the 3Msyndrome3 but are not markedly small. Russell-Silver syndrome is also excluded in that microtia ofthe degree reported in the sibs has not been de-scribed. Type II osteodysplastic primordial dwarf-ism causes disproportionate and more severe short

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Microtia and short stature: a new syndrome

Figure 5 Genu valgum in case 2 at the age of 4 years showing a bone maturation of 15 months, flattened epiphyses, andslender long bones.

stature associated with microcephaly and mentalretardation, not seen in the two sibs.

We report these sibs to draw to the attention ofother clinicians this short stature syndrome which

Features of the patients of Hurst et al' and present patients.

Hurst et al'

Features Patient A Patient B Sib 1 Sib 2

Birth weight (<3rd centile) + 3rd +Proportionate short statute + + 10th +

centileMicrocephaly + + - +Small ears + + + +Small mouth/small jaw + + + +Short neck + +Absent patellae + ? + +Delayed skeletal maturation + + + +Slender bones + + + +Flattened epiphyses + ? + +Glenoid fossa Shallow Absent Shallow Normal'Hooked' clavicles + + +Elbow dislocation - - - +Gaps in ibs - +Clinodactyly ? + +Seizures + ?Mental retardation + ?

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790 Cohen, Temple, Symons, Hall, Shaw, Bhamra, Jackson, Pembrey

may be easily identified at birth by the small, simple 1 Hurst JA, Winter RM, Baraitser M. Distinctive syndrome ofshort stature, craniosynostosis, skeletal anomalies and mal-

ears. Autosomal recessive inheritance or germinal formed ears. Am J Med Genet 1988;29:107-15.mosaicism are possible modes of inheritance. 2 Duca D, Pana I, Ciovirache M. A previously unreported, domin-

antly inherited syndrome of shortness of stature, earmalformations, and hip disolocation: the coxoauricular syn-drome - autosomal or X-linked male-lethal. AmJ Med Genet

We would like to thank the family for their help with 1981;8:173-80.this paper and Dr Robin Winter for his helpful and 3 Miller JD, McKusick VA, Malvaux P, Temtamy S, Salinas C.The 3M syndrome: heritable low birth-weight dwarfism. Birthtimely discussions. Defects 1975;XI(5):39-47.

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