Chondrodystrophy fetalis

CHONDRODYSTBOl’HY EDITH

L. POTTER, M.D.,

(From

the Department

PH.D.,

FETALIS A. COVERSTONE,

XL).,

of Obstt+cs and Gynecology, The and The Chicago Lying-in Hospital)

University

AND

V.

CHICAGO,

ILL.

of Chicago,

NTEREST in the subject of chondrodystrophic dwarfism was given added impetus at The Lying-in Hospital, when, on April 22, 1947, a chondrodystrophie infant was I Chicago delivered by cesarean section. Both parents of this baby mere typical chondrodystrophic Although the incidence of infants born with this developmental defect is not suffidwarfs. ciently rare to warrant comment, the fact that both parents also presented this form of dwarfism makes the case worthy of report and some discussion, The very extensive work of Rischbieth and Barrington’ (1912) lists only two instances in which a baby and both parents were chondrodystrophic. A partial review of the literature from 1901 to 1942 discloses no similar cases. A newspaper item published in Denver, Colorado, in 1943, stated that a dwarf baby had been born by cesarean section to dwarf parents, but we have been unable to verify this report. Both parents seem to have been dwarfs, but whether they mere chondrodystrophic is not certain. Our

case report

is as follows:

Mrs. J. M., a %-year-old white, primigravid, married, chondrodystrophic woman, first reported to The Chicago Lying-in Outpatient Department on November 29, 1946, for prenatal care. She was escorted by her husband, who was also a typical chondrodystrophic dwarf. Her past medical history was not noteworthy except that she had had defective skeletal development since birth. She had attended public schools, where her progress had been average. The patient’s father and mother are living, well and normal. She has five sisters and one brother, all living, well and normal. No dwarfism was found when her pedigree was traced through four generations. The patient’s husband was able to establish a pedigree through three generations in which there was no dwarfism. His father, mother, and three brothers are all living, well and normal. Each of his brothers is married and has two, three, and three normal children, respectively. Mrs. J. M.‘s obstetric history was not unusual. Her menses appeared at the age of 15 years, the cycle was twenty-eight days, and the duration was two days. Her last menstrual period was August 20, 1946, and it was normal. The estimated date of confinement was May 27, 1947. Physical examination showed the patient to be in good health. All the findings characteristic of chondrodystrophy were present. There was no evidence of ric.kets. Her height was 116 cm., and she weighed 33.7 kg. The pelvic examination was recorded as follows: external genitalia normal; introitus nulliparous; vagina normal; the cervix was above the pelvic inlet and could not be palpated because of the pelvic deformity; the sacrum was displaced anteriorly so as t,o lie almost against the symphysis; the uterus, palpated abdominally, was enlarged to the size compatible with twelve weeks ’ gestation; the adnexae could barely be reached through the lateral portions of the pelvis and no abnormalities could be made out; a moderate lumbar lordosis was present. The pelvic measurements were: intercristal 21 cm.; interspinous 20 cm.; bitrochanteric 27 cm.; external conjugate 13 cm.; biischial 6 cm.; the pubic arch was narrow and the angle at the symphysis was acute: the conjugata vera was no more than 2 cm. The patient was given routine prenatal care, and it was anticipated that pregnancy would be terminated by laparotrachelotomy at approximately the 38th week of gestation. The prenatal course was uneventful until April 22, 1947, at which time active began and the membranes ruptured spontaneously. A eesarean section was performed mediately, using ?& per cent Novocain local anesthesia. +4 living, female, premature 790

labor imchon-

Volume Number

56 4

CHONDRODYSTROPHY

drodystrophie infant was condition. The mother’s twelfth hospital day.

delivered. postoperative

She

cried course

FETALIS

spontaneously was normal

791

and

and appeared to be in good she was discharged on the

The infant at birth weighed 2,310 Gm., measured 43 cm. in total length, and 34 weeks’ menstrual age. Physical examination revealed the following characteristic ings of chondrodystrophy: mild macrocephaly, prominent frontal and parietal saddle-pug nose, abnormal shortness of the extremities associated with exaggerated ture of the long bones and overgrowth of soft tissue, trident-shaped hands, and length of the body trunk. The infant’s hospital course was not unusual except that gain was slow. The baby was discharged on the twenty-first hospital day weighing Gm. iFig. 1). Subsequent examination on July 3, 1947, reveaIed a well, vigorous who was gaining weight normally.

Fig.

was of findbosses, curvanormal weight 2,510 infant,

1.

Discussion The management cesarean section in all

of this case chondrodystrophic

presents no obstetric problem. The indication dwarfs is clear cut and without alternative.

for As

A,,,. J. Ob\t. & Cyncc. October. 1945

~\as recognized tleliver a viable 1 his condition.

by Risehbieth baby vaginallv

and Barrington because of the

in 1913, no chondrodystrophic pelvic deformity constantly

woman associated

c’:ill With

In spite of the great interest in dwarfism, as e\,idencetl by the accumulated historical records, literary classics, objects of art, and scientific reports, the etiology of ehondrodystrophic dwarfism remains vague and subSect to debate. The malformation has heel1 attributed to almost every possible cause. At t~he present time it is generally believed that heredity is an important factor and that mutations producing this abnormality and SU~Wcluently capable of being inherited appea.r with a fair degree of frequency. It is not clear whet.her the hereditary kffeet is transmitted through the. endocrine system or through the factors concerned with skeletal development. That the hereditary aspect of dwarfism iy 1101. a recent idea is evidenred by the att.empts of Catherine de Medici and others ten Study of pedigrees in which ehondrodystroph? produce a dwarf race by intermarriage. (n’~rs loaves no douht that heredity is involved. Geneticists in general are of the opinion that the inheritance is transmitted through simple Mentlelian factors. The failure r!t (lwarlism to appear in all generations of a pedigree is esplained hy the so-called “skippinf mch:t~~i~n~ ” due to a lack of ‘ ‘penetrance ” of t,he genes.2 Related to the hereditary aspects of chondrodystrophy is the high death rate of a ffec*ted babies. The high incidence of intrauterine death at about the eighth month of gestation is recognized, and t,he prognosis for those babies born alive must always la* wwdetl since many die during the first year of life. No satisfactory explanation has been atlv%neerl for this high mortality, although it has I)een suggested that, in many instances. ear1.v death is due to a premature svnostosis of the four segments of the occipital bone. resulting in a compression of the growing spine and llrain stem at the foramen maguun~. The “let,hal effect” of homozygous inheritance fact.ors has been suggested as a cause of early death and has been supported bv proof of this phenomenon in experimentation with chondrodystrophic animals. Since 19.31, during the course of o\er 48,Ona deliveries, four other c,hondrodystrophie infants have been born at The Chicago Lying-in Hospital. Two mere delivered by cesarean section, one by version and extraction, and one hy midforceps. None of these babies surrived; a.11 were stillborn or failed to live hey-ond the early neonatal period, Six other GXllondrodystrophic infants were received at this hospital for autopsy from other Chicago sources. The parents of all ten infants were without evidence of chondrodystrophy and in no instance could a history of dwarfism in other members of the family he obtained. During the period c!hondrodyxtrol,hi~~ di~u?;s t,heir deformity.

otlr~‘r

of Mrs. 3. M.‘s hnspit~alization, dwarfs in the (!hieago area. The following inform&ion and

it

was

‘J’hcse

opinions

I. The estimated number of ehondrodystrophic dwarfs 2. The estimated number of chondrodystrophic dwarfs (No accurate census is available.) mately 3,000. 3. The parents of the 11 individuals interviewed were dwarfism in their families. 4. The individuals contacted knew of the following present:

possible to eont.act cIcv(~Il people were all willing 1~1 were obtained from them:

in the Chicago area in the United States normal,

and

there

families

in

which

is forty. is approxi-

was

no other

dwarfism

is

a. Four families in which the father is chondrodystrophic and the mother is normal. The children of these parents are all normal. IJ. One family in which husband, wife and three children are normal and three children are ehondrodystrophic. 6. One family in which both husband and wife arc normal but all of their five children are chondrodystrophic; 5. Very few chondrodystrophic dwarfs marry. Those who do usually marry normal individuals. Marriages in which husband and wife are both chondrodystrophic are exceedingly rare.

Vohme Number

56 4

CHONDRODYSTROPHY

798

FETAL18

Conclusions I. Two instances have been found in the literature in which father, mother and child chondrodystrophic dwarfs. The present report brings the total to three. 2. Cesarean section is always indicated for the delivery of a pregnant ehondrodystrophie woman. 3. Prognosis for survival of chondrodystrophic infants should be guarded. 4. Chondrodystrophic children, for the most part, appear in families in which both father and mother are normal. 5. Chondroclystrophy seems to be inherited as a simple, dominant, Mendelian character complicated by: . a. Mutations which occur more frequently than has been generally appreciated. b. ‘ ‘ Skipping phenomenon. ’’

are

References 1. Rischhieth and Barrington: Memoirs, XV, Parts VIII 2. Gates, R. R.: Human Genetics,

Treasury of Human Inheritance; Eugenics and XV A, University of London, 1912. New York, 1946, The Macmillan Company.

laboratory