대 한 방 사 선 의 학 회 지 1993 ; 29 (6) : 1337~ 1340 Journal of Korean Radiological Society. November. 1.993

Prenatal Imaging of Thanatophoric Dysplasia: A Case Report

Jeong Geun Yi, M.D., Mie Young Kim, M.D., Kyung Joo Park M.D., Chun Hwan Han, M.D., Joo Hyuk Lee, M.D.

Deþartmeηt 0/ Radiology, Kaηgηam General Hospital P:μblic Coφoration

- Abstract-

Thanatophoric dysplasia is the most common lethal congenital chondrodysplasia with characteristic features

of narrow thorax , short rib , severe platyspondyly, short bowed limbs and skull deformity, etc. It is not a hered­

itaη disorder and there is usually no family history of dysplasia. We experienced a case of thanatophoric dys­

plasia at 38 weeks of gestation with antenatal sonographic and abdominal radiographic findings of small thor­

ax, short bowed extremities with surrounding thickened soft tissues and marked platyspondyly. Soon atter de­

livery, the baby died and post-mortem radiographs showed the characteristic findings of thanatophoric dyspla­

sla.

Index Words: Bones, osteochondrodysplasias 40 .151 , 40.152

Fetus, abnormalities 856.871 , 856.873

Fetus, US studies 856.1298

Pregnancy, US studies 856.1298

Thanatophoric dysplasia is the most com­

mon neonatal short -limbed dwarfism which is

incompatible with life and it has long been mis­

interpreted as a severe form of achondroplasia

until 1967, when Maroteaux et al. (l) first de­

scribed it as a definite and discrete entity.

We experienced a case of thanatophoric

dysplasia at 38 weeks of gestation studied with

sonography(US) , maternal abdominal radio­

graph and post-mortem radiographs.

CASEREPORT

A 28-year-old woman visited our hospital

for prenatal evaluation of her second bady. Her

previous pregnancy was normal and there was

no family history of dysplasia. She complained

no problems except slightly. weak power of

fetal movement compared with her first preg­

nancy. Real-time US(Acuson, Mountain View, CA) with 3.5-MHz transducer showed

p이yhydraminos ， small thorax and thickened

soft tissue surrounding bowed thick long bones

which are very short for the gestational age(Fig

1a,b). Abdominal radiograph revealed severe

platyspondyly and bowed thick long bones(Fig.

2). Soon after delive까 the female baby died

and post-mortem radiographs demonstrated

the characteristic findings of thanatophoric dys­

plasia(Fig. 3).

DISCUSSION

The prevalence of thanatophoric dysplasia is

one in 6,400 to 16,700(2-4) births and the in­

heritance pattern is sporadic. The name is de-

이 논문은 1993년 4월 1일 접수하여 1993년 5월 20일에 채택 되 었음.

Received April 1, Accepted May 20, 1993

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Journal of Korean Radiological Society 1993; 29 (6) 1337~ 1340

a b

Fig. 1. US of fetus , gestational age of 38 weeks a. Small thoraci.:: cage(small arrows) and relatively protruded-looking abdomen(large arrows) but, abdominal circumference , head circumference and biparietal diameter were appropriate for gestational age. b. Bowed, thickened and very short femur(empty arrows) appropηate for length of 17 weeks of gestation and thickened soft tissue of extrellÙty(black arrows).

rived from the Greek “ thanatophoros" which

means "constantly bearing death" since early

death is constant and inevitable. Distinguishing

US features described are p이yhydrarninos ， nar­

row thorax, macrocephaly, Kleeblattschädel

(cloverleaf skull) deformity, short bowed thick

long bones and thickened soft tissues of ex­

trernities(2 -10) and the radiographic findings

are characteristic for marked platyspondyly with

“ H" or inverted “ U" shape of vertebral body, narrow thorax with short rib , macrocrania and

Kleeblattschädel deformity, short curved long

bone, flat acetabular roof and narrow sciatic

notch(l -7 ,9 ,10).

Our case did not show the macrocrania, hydrocephalus and Kleeblattschädel deformi­

ty. Cloverleaf skull deformity is well known with

thanatophoric dysplasia(2 ,4 ,6,8-10) but the in­

cidence of association is only 14%(8). This de­

forrnity consists of grotesque trilobed skull, mirnicking cloverleaf appearance with prorni­

nent both temporal and vertex regions due to

early intrauterine closure of coronal and

lambdoid sutures, but it is not specific for

thanatophoric dwarfism because homozygous

achondroplasia, Apert syndrome, Pfeiffer

Fig. 2. Plain abdominal radiograph. Marked platyspondyly(empty arrows) and thickened curved long bones of upper extremity(black arrows) and nor. mal appearance of skull

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Jeong Geun Yi , et al : Prenatal Imaging 01 Thanatophoric Dysplasia

a b

syndrome , Carpenter syndrome and Crouzon

disease can also show this deformity(8). But

with US findings of short curved limb, no fami­

ly history of dysplasia associated with c10verleaf

skull deformity can make the diagnosis of

thanatophoric dwarfism(8).

Sonographic demonstrations of shortened

and curved extremities are proofs of congenital

chondrodysplasias inc1uding thanatophoric dys­

plasia but homozygous achondroplasia, achondrogenesis, camptomelic dysplasia, osteo­

genesis imperfecta(type II) , asphyxiating thorac­

ic dystrophy, hypophosphatasia and short-rib

polydactyly syndrome can also show those fea­

tures(4 ,8).

Although the reason was not certain, soft

tissue thickenings in extremities were previously

reported in US studies(5-7). Cremin et al. (5)

proposed the hydrops accompanied with gener­

alized circulatory failure and the disproportion­

ate growth of soft tissue and skeleton as the eti­

ologies.

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Fig. 3. Post-mortem radiographs of anteroposterior(a) and lateral (b) views. Marked platyspondyly with “ H" shape of vertebral body, most characteristic to thanatophoric dys­plasia and narrow thorax with short ribs, small square iliac bones, flat acetabular roofs , thickened curved veη short long bones of extremities especially “ telephone receiver" appearances of both fem­ora.

REFERENCES

l. Maroteaux P, Lamy M, Robert JM. Le nanisme

thanatophore. Presse Med 1967; 75:2519-2524

2. Moore QS , Banik S. Ultrasound scanning in a

case of thanatophoric dwarfism with clover-leaf

skull. Br] Radiol 1980; 53:241-245

3. Beetham FGT, Reeves ]S. Early ultrasound diag­

nosis of thanatophoric dwarfism. ]CU 1984; 12:

43-44

4. Spirt BA, Oliphant M, Gottlieb RH , Gordon LP

Prenatal sonographic evaluation of short-limbed

dwarfism: an algorithmic approach. Radio

Graphics 1990; 10:217-236

5. Cremin BJ, Shaff MI. Ultrasonic diagnosis of

thanatophoric dwarfism in utero. Radiology

1977; 124:479-480

6. Burrows PE, Stannard MW, Pearrow ], Sutterfield S, Baker ML. Early antenatal

sonographic recognition of thanatophoric dyspla

sia with cloverleaf sk비1 deformity. AJR 1984;

143:841-843

7. Shaff MI, Fleischer AC, Battino R, Herbert C, Boehm FH. Antenatal sonographic diagnosis of

Journal of Korean Radiological Society 1993; 29 (6) 1337"-' 1340

thanatophoric dysplasia. JCU 1980; 8 :363-365

8. Mahony BS, Filly RA, Callen PW, Golbus MS.

Thanatophoric dwarfism with the clover!eaf

skull: a specific antenatal sonographic diagnosis .

J Ultrasound Med 1985; 4:151-154

9. Fink 1], Filly RA, Callen PW, Fiske CC

〈국문 요약〉

Sonographic diagnosis of thanatophoric dwarf­

ism in utero. J Ultrasound Med 1982;1 :337-339

10. Pretorius DH , Rumack CM, Manco-Johnson

ML, et al . Specific skeletal dysplasias in utero:

sonographic diagnosis. Radiology 1986;159:237-

242

Thanatophoric Dysplasia의 산전 영상진단 : 증례보고

지방공사 강남병원 방사선과

이정근·김미영·박경주·한춘환·이주혁 Thanatophoric dysplasia는 출생 후 짧은 시간 내에 사망하는 선천성 왜소성 골이형성증의 하나로서 그 빈도는

6400에서 16700명 중의 하나로 보고되고 있다. 저자들은 출산 전 임신 38주에 초음파와 단순 복부 촬영으로 그 특정

적 소견을 관찰하고 출산 후 곧 사망한 l예를 경험하였기에 이에 보고하는 바이다.

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