JC Nainby-Luxmoore. Ellis - van Creveld Syndrome (Chondroectodermal Dysplasia Syndrome) in a Gurkha Family


JR Army Med Corps 1988; l34: 126-127 Case Report 

Ellis - van Creveld Syndrome, 
(Chondroectodermal Dysplasia Syndrome) in a Gurkha Family 

Captain J C Nainby-Luxmoore 
BA, MB, BS, RAMC 
Se ni or Hou se Officer in Paed iatri cs 
Srilish Miliwry Hospital, Hon g Kong, SFPO 1 • 
SUMMARY: The first reported case of Ellis - van C reveld syndrome in a Gurkha child is described , and the implications 
of th e syndrome in this ethnic group are briefly considered. 

lntroduction 
This autoso ma l recessive syndrome \vas first described 

by E Jli s a nd va n Crevcld in 1940 1, T hey reported three 
children with the fo llowing co ngeni ta l ab normaliti es: 
ec todermal dysplasia (affectin g the hair , teeth and 
nails), polydact yly , cho ndrodyspla sia , and co nge nital 
'-'morbus cordis". The largest si ngle stud1· of this syndrom e was presented by McKui sk in 1964 \v he n be 
reported 52 cases in a highl y inbre d Amish population in 
the USA. It has , however, never been previously 
documented in a Nepalese fa mil y. 

Case Report 
A fe ma le chil d was delivered by a 24 year old Gurkha 

Corporal 's wife , para I , gravida 2 . 111e moth er's fir st 
child , a boy. had hee n born e ighteen mo nth s previo usly 
by for ceps de live ry in Nepa l, but had di ed at8 mo nths of 
age due to me ningiti s. During thi s seco nd pregnanc y she 
was admitted to hospital twice, once a t 33 weeks (by 
dates) because of po lyhydramnios, and then again at 35 
weeks becau se of abdominal pain , possihle ante par tum 
haemorrhage a nd premature labour. 

Labo ur st arted spo ntaneously a t 35+3 weeks by dates 
(33 weeks by sca n) . The firs t stage took 7 hou rs 4S 
minutes and was latterly aug me nted by oxytoci n; th e 
second stage took 6 minutes. Th e baby's birth weight 
was 2. 100 kg, and she was give n IllU CUS extrac tion a nd 
facial oxygen. Apgar scores were 8 at I minute, 9 at 5 
minutes and 9 at 10 minutes. She was t ben tra nsferred to 
an in cubator. 

Genera l clini ca l examination revea led multipl e 
t;!x terna l ab no rmalities. The limbs were short a nd the 
chest was small (Fig. I). Six fingers were present o n each 
hand , and short simian palmar creases with in cur vin g 
linle fi ngers were also present bilaterall y (Fig . 2) . Clefts 
we rt;! noted bil atera ll y between the great and second 
toes, a nd a ll the nail s were sma ll and dysplast ic (Fig. 3). 
Two inci sor teeth were clearly presen t in both uppe r and 
lowe r jaws (Fig. 4). There was a lso a n ejection s)'sto li c 
murmur which was loudes t at the left stern a l cdge , but 
the re were no sign s o f cardi ac failure. The passage of a 
nasogas tri e tube exclud ed oesophageal a tresia. 

She rece ived regu lar o ral feeds, but sixtee n ho urs 
after delivery she developed profound hypoglycae mia. 
thermoreg ul atory di sturban ce a nd cardia.e failure. 
D espite a ll res usei tati vt;!effort s, she died six hours la te r. 

Ra dio logica l examinati on after death co nfirmed 
prematurit y, and revealed a normal vau lt and sp ine, a nd 
no rmal ribs . T he re was, howeve r, symmetrica l 
short e ning of both t he proxi mal a nd distal bones of the 
limbs, \vhich we re ot he rwise norma ll y mode lle d . U ln ar 
sided polydactyly was also co nfi rmed. i 

At postmortem exam in a tion the pericardiu m was .4 
no rmal. a nd tbe heart was of norma l size. There was, 
however. a common atrioventricular orifice and a singl e 
o utl et from the hea rt. This truncus arteriosus supplied 
both the systemic and pulmonary circulation s. Th e main 
sys te mi c veins and arte ries a ppeared to have a normal ~ 
confi guration . 

chest and short extremities. • 

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J C Nainby-Luxmoo re 

Fig. 2. Post mortem view of the right hand showing 
polydact)!ly . 

Fig. 3. Post mortem view of the dorsum or the right ha nd 
.. showing nail dysplasia and polydactyly. 

Uiscussion 
... E llis - van C reveld syndrom e carrie s a mortality of 

about fi fty per ce nt in ea rl y infancy because o f th e 
card iac ab no rma li ties. Most of those \ .... ho s ur vive are o f 
normal int e lli gence a nd h,we an adu lt h eight of 43 to 60 
inches. The re a re, however, freque nt d e nt al problems 
and a lso lim itatio ns in h a nd function . 

• A s the sy ndro me has no t prev io us ly bee n report ed in 
a Ne palese family , it s impli ca tion s for these fannin g 
peo ple have neve r h ee n cons idere d. Whil e the short 
stat ure wo uld be o f .litt le signi ficance in a populat io n of 
s ma ll peo ple, th e ah no rmaliti es of the h and s and the 

• possibilit y o f me ntal re tardation would not be socia ll y 
accep tab le. Neve r thel ess, Ne palese culture h o ld s the 
ability tu raise a la rge family in high es teem, despit e hig h 
infant mo rtali ty, and ma le childre n recei ve markedl y 

127 

Fig. 4. Post mortem ,"'iew of the mouth showing the upper 
two teeth. 

pre fe re ntial care. T hi s famil y is, the re fo r e currentl y of 
low s tatus becau se bo th o f th e ir babi es so far ha ve died. 

Thl: autusoma l recessive nature of th e co ndition 
mea ns that they a re a t hi g h ri s k of h aving ano ther 
affec kd child a nd wou ld obvio usly benefi t from 
antenata l diag n osis , as describe d in papers by Hobb in s 
et al\ Ma ho ney et al 5 and Sui et al , usin g tcchniqu t:s 
such a s rea l 1im e ultrasou nd .. HId fe toscopy. Th ese are 
not , un for tuna te ly, ava il Hhle in Nepa l. 

The question therefore arose as to w·hethe r the fa mil y 
shou ld h e told of t he 25(X, chance of s u bsequent ba bies 
bein g affecled. In view of the social mores , it was fe lt 
that they wo uld co ntinue to try to have a family until 
th ey h ad a t least o n c health y boy. The y were th ere fore 
to ld of the p oss ibilit y of their having anoth e r affected 
baby, but the numeric probability of such a n eve nt was 
o mitted . 

R EFER ENCES 
I . EL L! S R \V Band . VAN CREVE LD S. A ~yndromc 

characterised by ec toderm al dy splasia , polydac tyly , 
chondro-dyspla sj::l and co nge ni tal morbus cordis . Repon of 
thrce cascs. Arch ()i~· Child 1940; 15: 6s.-g4 . 

2. EU .ls R WB and ANDREWS .T D . Chondroectodermal 
dyspl as ia. 1 Bone loim Sur!? 1962; 448 : 626- 63 1. 

3. Mc KuISK V A, cl u/ . DWa rfism in the Arnish . The E l1i s - van 
Creveld syndro me. Bull Hopkins Hosp 1964 ; 115: 306-336. 

4. Il oDBINS J C , BRACKEN H B a nd MAHON EY H J . Di ag nosis 
of fe tal skel eta l Jysplasias with ultr aso und. Am j ObSfl'f 
GY'lI'co/19~2; 142/3: 306-3 12 . 

5 . MAIIONEY H J an d HOIJHI NS J C. Prenata l diagnos is of 
chondrocctodermal dysplasia (E l1i s-van Cre .... eld syndrome) 
wi th fe to scop), anJ ultraso und. :V Engl j Med 1977 ; 297(5): 
258-26U. 

6. BU I T 11. el al. Prena ta l di ag no sis of chondrocctodcrm at 
dysp lasia with fetoscopy. Prclla/ Diagll. 1984; 4(2): 155-15Y. 

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