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Title: Hereditary achondroplasia, a review, and a prenatal Jersey case
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Title: Hereditary achondroplasia, a review, and a prenatal Jersey case
Alternate Title: Dairy science mimeo report DY69-5 ; Florida Agricultural Experiment Station
Physical Description: Book
Language: English
Creator: Becker, R. B.
Wilcox, C. J.
Neal, F. C.
Publisher: Florida Agricultural Experiment Station, University of Florida
Place of Publication: Gainesville, Fla.
Publication Date: April 15, 1969
Copyright Date: 1969
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Bibliographic ID: UF00091661
Volume ID: VID00001
Source Institution: University of Florida
Holding Location: University of Florida
Rights Management: All rights reserved by the source institution and holding location.
Resource Identifier: 317307090 - OCLC

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    Bibliography
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FLORIDA AGRICULTURAL EXPERIMENT STATId; UG G0 TO i
Gainesville, Florida
I F.`.5. 'Q H ru ?I:;,-LC -,
Dairy Science Mimeo.Report DY69-5
April 15, 1969



HEREDITARY ACHONDROPLASIA, A RE\'IEI, AND A PRENATAL JERSEY CASE

R. B. Becker, C. J. Wilcox, and F. C. Neal1


Achondroplasia (ankylosis) is a term descriptive of several conditions

involving skeletal muscles and bones. A Jersey heifer calf in the Florida

Agricultural Experiment Station dairy herd was born in 1968 with the

affliction.

REVIEW OF LITE.ATULPE

Defective hip joints in man were reported by Hippocrates, 460-370 B.C.,

(34). Pare of France discussed its hereditary aspects in 1678 (13).

Hereditary achondroplasia or ankylosis has been recognized in several species

(17).

Cattle. Some investigators have used the terms achondroplasia or

ankylosis to describe the bulldog traits in cattle, of which two nonlethal

and five lethal types have been reported. A nonlethal was observed by

Darwin (10) among cattle near the Plata River in Argentina, where the natives

spoke of them as niatas or natas. Bulldog character was found to be hereditary

in a closely-bred herd of grade Jerseys in Florida in which the nasal bones

were short and wide, the forehead was wide and the orbits were large (2).



Professor Emeritus, Associate Geneticist, and Associate Veterinarian
(Department of Veterinary Science), respectively.










Mandibles (lower jawbones) curved slightly upward resulting in an upturned

muzzle. As in a bulldog, the skull was short and broad. This defect was

termed prognathism in European veterinary literature. It appeared to be a

simple recessive character.

Currie (9) and Murray (28) described a generalized lethal ankylosis

in four Friesian herds in New England. Affected cattle were traced through

six descendants to Bull X in 308 matings of 116 females. The ratio of

affected progeny indicated the cause of the deformity to be a simple

autosomal recessive gene. The heads of affected offspring tended to be

held in extension and the spinal column was rigid. Increased quantities

of fluids accumulated within the fetal membranes. Caesarian section was

sometimes necessary to deliver the calf and save the cow. The calves were

dead at birth or died soon afterward.

Gilmore (15) and Eaton (11) described four types of bulldog calves:

(a) short legs, short thick head and often with hernias; (b) short head,

cleft palate, and deformed jaws; (c) acroterasis congenita or amputated:

absence of lower parts of the limbs, cleft palate, atrophy of the lower jaw

or lower jaw almost lacking; (d) ankylosis: jaws shortened and mandibular

articulations ossified. These four types of bulldog are lethals. A non-

lethal fifth type was heterozygous duck legged cattle. Johansson (20)

added a sixth type of achondroplasia found in the Swedish Red and White

breed. An apparently normal bull sired nine abnormal calves among thirteen

progeny which had bulging foreheads and shorter and heavier bones of the

lower limbs.










Gregory et al. (16) obtained evidence that the bulldog characteristic

resulted from an interaction of genes at two loci on the chromosomes. They

believed that dwarfism was part of the bulldog character in Dexter cattle.

Crew (7,8) described the type of bulldog head (achondroplasia) in a

Dexter calf that had a bulging cranium, depressed nose, protruding lower jaw,

cleft lip, and a protruding swollen tongue curled over the nose. Legs were

shorter and the phalanges more widely separated than normal. Afflicted calves

had a large umbilical hernia. A survey of 646 births found 116 bulldog males

and females. The pituitary and adrenal glands were abnormal. Crew cited an

achondroplasia-like condition in cattle similar to that in people as follows:

"The lowest grade being seen in the case of an adult of low stature whose

arms and legs are short in relation to the trunk; the highest grade being in

the stillborn fetus which exhibits one or more of the very characters of the

bulldog calf. Cartilage formation was not arrested; it is one of an arrest

of bone formation in cartilage . . The humerus and femur are affected

more than the ulna and tibia, and the site of the lesion is limited to those

lines where bone is replacing cartilage."

Schaper (35) described six calves with shortened legs and bulldog head

sired by a Spotted Mountain bull. A calf by a Black Pied Lowland bull had

shortened legs and ankylosis of the shoulder. Other descendants by the same

bull had skeletal deformities believed to be of hereditary origin. Weber

(42) observed 30 calves affected with dyschondroplasia among Black Pied (Fribourg)

cattle which traced mainly to four herdbook bulls.

Congenital posterior paralysis, a lethal in Red Danish calves, was

traced by Loje (26) largely to one bull. Popularity of this bull because of

high production of his offspring led to spread of this gene to a substantial











proportion of his male descendants in the Danish herdbook. After the

condition became recognized as hereditary, its occurrence was reduced by

careful selection of sires.

Thompson et al. (39) reported that 65 calves in 27 Red Danish herds

were born with paralyzed hindquarters. Forty-two other calves in 11 herds

were mummified at birth. Calf mortality was due partly to the ankylosis

defect. They indicated that each defect was conditioned by single autosomal

genes. Robertson and Mason (33) cited the bull Hjager as a source of this

recessive hereditary defect.

Cranek and Ralston (5) reported paralyzed Red Dane calves that lay with

outstretched limbs and often had extreme angulation of the hocks. Thirty

seven male and 38 females in 27 herds were affected at birth. The condition

was apparently due to a recessive gene.

Spielman et al. (38) summarized 69 cases of Jersey calves manifesting

various degrees of muscular contracture and ankylosis similar to those de-

scribed by others (26,43).

Four Guernsey calves born in the Iowa State College herd (14) had hocks

that could scarcely flex forward. The fore pasterns were long and curved

anteriorly. Two were stillborn, one died at birth, and the fourth was

sacrificed.

Johnston and Young (23) reported 24 hereditary defects among cattle in

Great Britain. Eleven defective calves were unable to stand and died soon

of pneumonia. Their knee joints were rigid but pasterns and hocks had ex-

cessive flexure. Bull Y sired the 11 affected and 25 normal calves from 28

dams by 16 bulls. Bull Y appeared normal externally. The investigators

believed the defect was conditioned by a dominant gene with incomplete

penetrance. They termed the condition chondrodysplasia.










Williams (43) described ankylosis as being encountered with some

incestuous breeding. Muscles supplied by motor nerves did not develop or

were functionally arrested, as evidenced by pallor and inelasticity. They

were of normal length, but the body of the muscle was small and rigid.

Bones were about normal length but articulations were incompletely formed.

Dogs. Dysplasia of the hip was cited by Riser (32) to occur in 42

breeds of dogs in America. His report listed 100 references dealing with

the related conditions in cattle, chickens, dogs, goats, rabbits, sheep,

swine and man. Hip dysplasia (22) in young dogs of large breeds was

characterized by subluxation or dislocation of the hip joint with mal-

formation of the head of the femur and the corresponding acetabulum.

Johnston (21) also described hip dysplasia in the dog as a subluxation or

dislocation of the hip joint, with malformation of the femur head and

acetabulum of the pelvis and/or of the muscle tension tending to hold them

in position.

Horses. Prawechenski (31) reported a lethal factor in newborn foals

which exhibited lameness due to crippled forelegs. Some light horses also

have been affected.

Sheep and Goats. Schumann (36) reported a hereditary defect of the

legs of sheep and goats. Weber (41) noted six bulldog kids (males and

females) in the Saanen breed sired by two bucks. He suspected the condition

was caused by a lethal gene.

Rabbits. Both sexes of New Zealand White rabbits observed by Crary

and Sawin (6) exhibited achondroplasia. The animals have dislocation of

the epiphysis of the femurs resulting in lameness. The cause was said to

be an autosomal recessive gene.










Rabbits possess two types of achondroplasia. Brown and Pearce (4,30)

encountered one condition which was evident in heterozygous individuals.

Homozygous individuals died at or soon after birth. Some 228 achondroplastic

dwarf rabbits were recorded among 788 births in 132 litters. This approached

a 1:3 ratio typical of a single recessive gene. They indicated resemblance

of the condition to that in man, cattle and dog.

I splayleg condition in rabbits in which the legs spread out because of

defective formation of the hips and shoulders was reported by Innes and O'Steen

(19). The socket joint was too shallow and femur head too large, or both.

The cavity of the hip joint was shallow and small with a similar condition

of the shoulder joint. The legs spread out so that affected rabbits were

unable to sit normally. The authors believed that splayleg in rabbits was

similar to joint dysplasia in dogs and children. Incomplete ossification

of thl bone-forming cartilages presaged the condition.

chickens. A condition known as creeper in chickens was investigated

extensively byLandauer and coworkers (24,25). Embryos homozygous for the

character died at the third or fourth days of incubation, whereas heterozygous

individuals survived but were smaller at all stages of development. The long

bones were below average length, and the fibulas larger in proportion to the

tibias. Cartilagenous growth was disturbed and endochondral ossification

reduced. Landauer suggested that some fundamental process related to

selenium may be involved.

Warren (40) purchased a dressed fowl in the market which was affected

unil Iterally. Feathers remaining about the head were typical of an Austrolorp

x White Leghorn crossbred fowl which was common locally. The right legbone










was about 25% smaller than from the left leg. The right half of the body

and wing were smaller than on the left side of the body.

Man. Many reports concerning achondroplasia in man have been published.

Ehrenfried (12) described hereditary deforming chondroplasia as reported in

236 cases of man that were accessible since 1890 in English, French and German

medical literature. The condition was reported also in 15 other countries.

He pointed out three situations, namely: (a) benign disturbance in proliferation

and ossification of bone-forming cartilage of the skeleton, (b) causing

distortion and deformities, and (c) that inheritance is demonstrated clearly

in many cases. He stated "The affection is a chondrodysplasia of hereditary

or at least congenital origin, accompanied by secondary deformities of the

skeleton."

Hunter and Wiles (18) described dyschondroplasia as a disease of the

growing ends of bones in which normal ossification of the cartilage fails to

occur. As the bone lengthens, areas of cartilage in the diaphyses do not

ossify. The condition may be unilateral or bilateral. Radiograms of the

hips showed decreased density in the head and the neck of the right femur

of a boy in whom the right leg was two inches shorter than the left.

The Danish monograph by Mdrch (27) also described a defect in man

which he believed was controlled by a dominant gene that often arose through

mutation. Book (3) tabulated relationship of 123 persons in northern

Sweden who were of small stature, heavy musculature and a hand type mostly

between normal and isodactylic. This appeared to be due to a single gene,

probably with high penetrance. The defect was inherited as a simple

dominant, and was asymptomatic in the heterozygous state.










Jersey case History. A purebred female, weighing 48 lb after a

273-day gestation, was born in the Florida Agricultural Experiment Station

dairy herd. Photographs of the case may be seen in J. Dairy Sci., 52:1122

1969. The left foreleg appeared to be the same length but was more

slender than the normal right leg. This left foreleg could not be used

because of extreme flexion at the shoulder and knee joints. Two muscles

over the left scapula, the superspinatous and infraspinatous, were markedly

underdeveloped, as detected by palpation (37). The calf stood on three normal

legs with assistance. The dam had borne four normal calves by other sires.

It had been conceived by artificial insemination from a sire having over

25,000 first services without a similar defective calf being reported (29).

Twenty female Jersey calves with 273-day gestations in the herd had

weighed 34 to 63 lb (average 50.4 Ib) at birth. The average of 34 females

at fifth parturition was 54 lb. Hence this deformed heifer calf was dropped

3.5 days sooner and weighed 2.4 lb less than average for the herd (1).

The subnormal development of the left foreleg was termed a form of

achondroplasia, yet it differed from some cases in that only one leg was

involved. The condition developed during fetal life without reason to

suspect bone injury or progressive exostoses of bony tissue.

The calf was sacrificed when 60 days old for dissection and skeletal

examination. Both forelegs were boiled to remove the flesh (and periosteum).

The scapular cartilage also came away. The bones were dried in refrigeration

before weights were taken. Weights and measurements are listed in Tables

1 and 2.














Table 1. Dimensions of the shaft bones of Jersey heifer calf JJ7.


Radius Ulna

- - (cm) -


Metacarpel


Left fore leg -

Length

Circumference

Least diameter


Right fore leg -

Length

Circumference

Least diameter


14.3

4.95

1.43


15.4

6.55

2.10


14.5


15.6


---- 4.4 ----

1.30 0.30


15.9


16.3


---- 6.3 ---

1.78 .43


Table 2. Weights and scapular measurements from Jersey heifer JJ7.


Scapula

Spine extended laterally

Maximum distance to anterior


Humerus, weight


Humerus


15.8

4.4

1.56





14.8

5.3

1.89


Left


26.8 g

0.3 cm

1.5 cm


Right


43.6 g

1.2 cm

2.0 cm


73.1 g


37.7 g






-10-


The left scapula was affected anatomically. The spine was nearer to

the anterior border of the scapula and tended to turn slightly anteriorly

at the distal extremity. It extended laterally from the surface of the

scapula less than the spine of normal right scapula. The lower ridge also

resulted in a shallower infraspinous fossa, accommodating a smaller and

thinner supraspinatous muscle over the outer face of the left scapula than

on the right scapula (26). Shaft bones of the left leg were slenderer and

lighter than these of the right leg. The type of achondroplasia has been

described as being recessive in cattle, and appears to be exhibited seldom

in homozygous condition.


BIBLIOGRAPHY


1. Arnold, P. T. Dix, and R. B. Becker. 1953. Dairy calves their
development and survival. Florida Agr. Exp. Sta. Bull. 529.

2. Becker, R. B., and P. T. Dix Arnold. 1949. "Bulldog head" cattle.
Prognathism in grade Jersey strain. J. Hered. 40:282-286.

3. Book, J. A. 1950. A clinical and genetical study of disturbed skeletal
growth (chondysplasia). Hereditas 36: 161-180.

4. Brown, W. H., and L. Pearce. 1945. Hereditary achondroplasia in the
rabbit. J. Exper. Med. 82: 241-260.

5. Cranek, L. J. Sr., and N. P. Ralston. 1953. Paralyzed hindquarters -
a hereditary defect in American Red Danish cattle. J. Anim. Sci.
12: 892-893.

6. Crary, D. D., and P. B. Sawin. 1952. A secondary recessive achondroplasia
in the domestic rabbit. J. Hered. 43: 255-259.

7. Crew, F. A. E. 1923. The significance of an achondroplasia-like con-
dition met with in cattle. Proc. Royal Soc., Series B 95: 228.
Sept. 1.

8. Crew, F. A. E. 1924. The bull-dog: a contribution to the study of
achondroplasia. Proc. Royal Soc. Med. 17: 39-58.







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9. Currie, E. J. 1951. Generalized ankylosis, a lethal factor occurring
in Friesian cattle in New Zealand. Austral. Vet. J. 27: 76-78.

10. Darwin, Charles. 1890. The variation of animals and plants under
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11. Eaton, O. N. 1957. A summary"of the lethal characters in animals and
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12. Ehrenfried, A. 1915. Multiple cartilagenous exostoses hereditary
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13. Faber, A. 1937. Erbbiologische Untersuchungen ueber die Anlage zur
angelborenen Huefverrenkung. Zeat. f. Orthop. 66: 140-166.

14. Freeman, A. E. 1958. Curved limbs a lethal in dairy cattle. J.
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15. Gilmore, L. 0. 1952. Dairy cattle breeding. Pages 193-198. J. B.
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18. Hunter, D., and P. Wiles. 1934-1935. Dyschondroplasia (Ollier's disease),
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19. Innes, J. R. M., and W. K. O'Steen. 1957. Splayleg in rabbits. An
inherited disease analogous to joint dysplasia in chicken and dogs.
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20. Johansson, I. 1953. A new type of achondroplasia in cattle. Hereditas
39: 75-87.

21. Johnston, D. E. 1966. Hip dysplasia in the dog. Austral. Vet. J.
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22. Johnston, D. E. 1966. Hereditary patterns in dysplasia of the hip
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23. Johnston, W. G., and G. B. Young. 1958. A congenital muscle contracture
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24. Landauer, W. 1940. The nature of disproportionate dwarfism, with special
reference to fowls. Sigma Xi Quarterly 28: 171.




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25. Landauer, W., and L. C. Dunn. 1930. Studies on the creeper fowl. I.
Genetics. J. Genetics 23: 397-413.

26. Loje, K. 1930. Letale gener (dodbrigende arveanlaeg) hos husdyrene
specielt hos kvaeg of ud dansk milerace. Tidsk. for Landokon.
10: 517-549.

27. M(rch, E. T. 1930. Chondrodystrophic dwarfs in Denmark. Copenhagen.


28. Murray, M. D. 1951. A description of the deformity and the correction
of dystocia. Austral. Vet. J. 27: 73-75.

29. Nelson, M. E. 1968. Personal communications.

30. Pearce, L., and W. H. Brown. 1945. Hereditary achondroplasia in
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82: 281-295.

31. Prawechenski, R. 1936. A new lethal factor in the horse. J. Hered.
27: 411.

32. Riser, W. H. 1964. An analysis of the current status of hip dysplasia
in the dog. J. Amer. Vet. Med. Assoc. 144: 709-721.

33. Robertson, A., and I. L. Mason. 1954. A genetic analysis of the Red
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34. Schales, 0. 1957. Heredity patterns in dysplasia of the hip. North
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35. Schaper, W. 1952. (The origin of malformation in cattle and horses).
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36. Schumann, H. 1957. (Inherited defects of the limbs in the sheep and
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37. Sisson, S., and J. D. Grossman. 1958. The anatomy of domestic animals,
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38. Spielman, A. A., O. J. Hill and E. C. McCulloch. 1944. Congenital
muscular contracture and ankylosis in Jersey cattle. J. Dairy
Sci. 27: 655.

39. Thompson, N. R., L. J. Cranek, Sr., and N. P. Ralston. 1957. Genetic
and environmental factors in the development of the American Red
Danish cattle. J. Dairy Sci. 40: 56-66.

40. Warren, D. C. 1945. A case of lateral asymmetry in the fowl. J.
Hered. 36: 227.




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41. Weber, W. 1960. Bull-dog Zichlein bei der Saanenrasse. Schweiz.
Arch. Tierheilk. 102: 667-670. (Anim. Br. Abst. 29: 186. 1961).

42. Weber, W. 1963. Hereditary malformation in the Black Pied breed.
Schweiz. Arch. Tierheilk. 105: 289-294.

43. Williams, W. L. 1943. Veterinary Obstetrics, 4th edit. Page 180
Ithaca, New York.




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