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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
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
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
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
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
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
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.
- - (cm) -
Left fore leg -
Right fore leg -
---- 4.4 ----
---- 6.3 ---
Table 2. Weights and scapular measurements from Jersey heifer JJ7.
Spine extended laterally
Maximum distance to anterior
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.
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