•9 Augustus 1980 SA MEDIESE TYDSKRfF 255

Brachydactyly Type E

A Report of a Family

J. D. CARTWRIGHT, M. ROSIN, C. ROBERTSON

SUMMARYA family with dominantly inherited short stature, shortbroad hands and feet, normal facial appearance and nor­mal intelligence is described. Radiographs demonstratedfeatures of brachydactyly type E. A differential diagnosisof brachydactyly is given.

tres, with cupping of the opposing ends of the shafts; (iii)advanced maturation of the carpal and tarsal bones; and(iv) shortening of the tubular bones most marked in theproximal phalanges. The ulnar styloid processes were alsoelongated. Fig. 4 illustrates the typical radiological findings.The serum calcium, phosphorus and alkaline phospha-

Short stature is indicated by

peripheral dysostosis by ~

normal intelligence by ~

876432

S. Afr. med. J., 58, 255 (1980).

Brachydactyly or shortening of the fingers, hands and feethas been classified into several types.' When it is due toshortening of the metacarpals or metatarsals, it is referredto as brachydactyly type E. When it is an isolated findingor occurs together with short stature it is dom~nantly in­herited,' but when it is associated with other syndromes,such as acrodysostosis; Turner syndrome or pseudohypo­parathyroidism, which have mild-to-moderate mentalretardation as an additional feature, it occurs sporadicallyand there is no clear inheritance pattern. Recognition ofthe type of brachydactyly associated with normal intelli­gence provided rational genetic counselling for the affectedfamily described below.

FAMILY STUDIESThe proposita presented with specific reading disabilityand on routine medical examination her physical appear­ance prompted an investigation of the family. Weexamined her parents and 3 siblings, and the paternalgrandmother seemed involved on the basis of photographsand the family history. Fig. 1 shows the family pedigree.In the 4 affected family members height was below the3rd percentile for age and arm span less than standingheight. They had short broad hands and feet with normalnails, palmar creases, hair, and facies, and were of normalintelligence. The children had similar broad facies withlarge heads, but there was no significant mid-face or nasalhypoplasia (Figs 2 and 3). They also had high-archedpalates. Patient 2 had mild limitation of elbow exten­sion and patient 3 had malocclusion. Physical examina­tion was otherwise negative. Radiographs of the handsand feet of the 4 affected family members had the follow­ing features in common: (/) shortening of the metacarpalsand metatarsals, and to a lesser extent, the proximal andmiddle phalanges; (ii) conical epiphysical ossification cen-

Department of Paediatrics,' Boksburg-Benoni Hospital, Boks­burg, T\'I

J. D. CART\VRIGHT, M.B. B.CH., DIP. PAED.. Principal Paedia­trician (Present address: Department of Paediatrics. Univer­sity of the Witwatersrand; Johannesburg)

~1. ROSIN, 2"1..-\. (CLIN. PSYCH.), PsychologistC. ROBERTSON, M.B. B.CH.. l\I.MED. (RAD. D.). Radiologi\l,

2 3

IFig. 1. Pedigree of the family.

4

Date received: 2 November 1979. Fig. 2. The fades of the affected children.

-

256I

SA MEDICAL JOURNAL 9 August 1980

-

Fig. 3. Tbe profile of patient 3.

I). All have an autosomal dominant inheritance pattern,with normal intelligence and no other major defects. TypesA, fu, B, C and E are rather rare, but type A3 (5th fingerclinodactyly) and type D ('stub thumb') are commonenough to be considered normal population variants.

TABLE I. CLINICAL FEATURES OF THE HEREDITARYBRACHYDACTYLY SYNDROMES·

Type Features

AI Short, rudimentary middle phalanges; short proxi-mal phalanges of thumb and big toe; shortstature

A2 Affected phalanges of index finger and 2nd toeAl Short middle phalanx of 5th fingerB Short middle phalanges, absent or rudimentary

terminal phalanges; deformed thumb and bigtoe

C Short middle phalanges and metacarpals; fre-. quently middle and proximal phalanges of 2nd

and 3rd fingers are short; long ring fingerD Short. broad terminal phalanges of thumbs and

toesE Short metacarpals and metatarsals; wide varia-

bility in number of affected digits; short statureand round face

* All have an autosomal dominant inheritance pattern.

TABLE 11. GENERALIZED SYNDROMES ASSOCIATED WITHBRACHYDACTYLY OR PERIPHERAL DYSOSTOSIS

Peripheral dysostosis' is a descriptive term referring toshortening and deformity of the hands and feet. It hasbeen used in the clinical description of the hereditarybrachydactyly syndromes as well as in other cases of shortbroad hands and feet and more serious prognoses such asacrodysostosis, Turner syndrome arid trisomy 21 (Table II).These conditions usually occur sporadically, with mild-to­moderate mental retardation and other associated anoma­lies which may be severe.

Fig. 4. Radiograpb of tbe bands of patient 3, illustratingtbe sbortened, stubby metacarpals, cone-shaped epiphyses,and shortened proximJil phalanges, which were present inall patients.

tase levels were normal. The Wechsler Intelligence Scaletest was normal for all 4 affected members.

Syndrome

TurnerTrisomy 21Acrodysostosis

Pseudohypopara­thyroidism

Pseudopseudohypo­parathyroidism

Trichorhinopharyn geal

Radiographic features of hands and/or feet

Short 4th metacarpal/metatarsal5th finger clinodactylyShort metacarpals and phalanges;

deformed epiphyses (cone-shaped)Short 4th and 5th metacarpals and

metatarsalsShort 4th and 5th metacarpal.s and

metatarsalsBrachyphalanges, deformed fingers,

wedge-shaped epiphyses

-,

DISCUSSIONBrachydactyly, or the presence of short fingers, hands andfeet, is a useful sign in clinical medicine. When there is ahistory of the same defect in several generations of afamily, it is probably 1 of 7 different genetic types' (Table

The clinical features of Turner syndrome and trisomy21" are well known. Acrodysostosis has associated nasalhypoplasia and mental retardation. Patients with pseudo­hypoparathyroidism have associated hypocalcaemia, calci­fications in their basal ganglia and subcutaneous tissues,cataracts and round facial features. Patients with pseudo-

e

9 Augustus 1980 SA MEDIESE TYDSKRIF 257

pseudohypoparathyroidism are similar in appearance topatients with pseudohypoparathyroidism, but have a nor­mal serum calcium level! The patient with trichorhino­pharyngeal syndrome has peripheral dysostosis and shortscanty hair: thin nails and a pear-shaped nose. Radio­graphs of the hands and feet are of diagnostic value inclassifying the brachydactyly syndromes and are helpful inthe generalized group.

In conclusion, a detailed family history, careful physicalexamination and radiographs of the hands and feet wereused to diagnose the condition of brachydactyly type Ein this family. Rational genetic counselling was then given.

We wi h [0 (hank Mr R. Kushlick, orthopaedic surgeon.and Or S. Levin of Benoni for referring (he index patient.

REFERENCES

l. BeU, J. (1951): A" BrachydactJ·lia and Symphalangism: Treasury 0/Human Inheritance. val. 5. pp. 1-31. London: Cambridge UniversityPre s.

2. Riccardi, V. M. and Holmes, L. B. (1974): J. Pedia!.. 84, 251.3. Robinow, W .. Pteiller, R. A., Gorlin. R. J. et al. (971): Amer. J.

Dis. Child., UI, 195.4. Bergsma, D., ed. (1969): Birch De/ects Atlas and Compendium. Balti­

more: Williams & Wilkins.5. McKusick. V. A. (975): Mendelian Inheritance in Man, 4th ed. Balti­

more: Johns Hopkins University Press.6. Smith, D. W. (1976): Recognisable Pauerns 0/ Human Malformation.

Philadelphia: W. B. Saunders.

Pasteurella multocida Septicaemia ComplicatingFeUy's Syndrome

A Case Report

M. A. K. OMAR, B. DAYAL, P. C. APPELBAUM

-

SUMMARYA patient with Felty's syndrome complicated by septi­caemia due to Pasteurella multocida is presented. Diseasecaused by this organism is unusual in humans and itsoccurrence in the absence of trauma, as was the casein our patient, even more so.

S. A/I'. med. l., 58, 257 (1980).

Pasteurella multocida (septica) is primarily a pathogen ofanimals. 1 It may be found as a commensal in the mouthsof a variety of wild and domestic animals, ranging frommice to lions.' This organism occasionally causes diseasein man, as is illustrated by the following case report.

CASE REPORTA 60-year-old Black woman presented with fever, gene­ralized weakness, and pain and swelling of the left kneejoint. She had suffered from joint pains for more than 10years. Although she had been seen at King Edward VIII

Departments of ledicine and Microbiology, King EdwardVID Hospital and University of Natal, Durban

M. A. K. OMAR, M.B._ CH.B., F.C.P. (S.A.), M.Rep.B. DAYAL, lIo'LB. CH.B., M.R.C.P. (Present address: Joslin Clinic,

Boston, USA)P. C. APPELBAUM. M.D.: PH.D. (Present address: Depart­

ment of Pathology, Hershey Medical Center, Hershey, Pa17033, USA)

Date received: 21 December 1979.

Hospital when her joint pains started, she defaulted andwas lost to follow-up. She came from a rural area whereshe came into contact with dogs, cats, rodents, goats andcattle.

On examination, she was found to be emaciated andpyrexial, with cervical adenopathy. There was evidenceof severe rheumatoid arthritis involving the hands, elbows,knees and feet (Fig. 1). She had bursitis over the rightolecranon region and an inflamed left knee joint. Radio­logical examination showed evidence of arthritis mutilansinvolving both elbow joints, with typical features ofrheumatoid arthritis in the hands, feet and knees. A pro­visional diagnosis of Felty's syndrome was made.

Laboratory investigations yielded the following: haemo­globin 6,4 gldl with a normochromic, normocytic bloodpicture; white cell count 26001p.1 (64% neutrophils); andplatelet count 73 0001J-ll. Tests for rheumatoid factor andantinuclear factor were positive, the former in a titre of1I 1 280. LE cells were not seen. Protein electrophoresisshowed a low albumin (18 gll) and an elevated gamma­globulin level (32 g/l). There was no albuminuria. Aspi­ration of the left knee joint on admi sion revealed pus.Initial treatment before results of blood and joint aspirateculture were known was with ampicillin (1 g 6-hourlyintravenously) and cloxacillin (1 g 6-hourly intravenously).Blood culture yielded P. multocida, but culture of thejoint aspirate was sterile.

Since the organism was sen itive to ampicillin andcloxacillin, treatment was continued with these antibio­tics. The patient began to feel better, the fever and kneeinflammation ubsiding within a few days. In addition to