Chondrodystrophia Calcificans Congenita Research Articles

Chondrodystrophia calcificans congenita (Conradi's disease) in a mother and her child.

A case of a mother suffering from chondrodystrophia calcificans congenita, who gave birth to a baby with the same disease, is described. The previous idea that this disease shows an autosomal recessive inheritance must be reconsidered, as evidently a dominant inheritance also occurs.

THE CEREBRO-HEPATO-RENAL SYNDROME (CHRS)

THE CEREBRO-HEPATO-RENAL SYNDROME (CHRS) (ZELLWEGER’S SYNDROME)ANDREW K. POZNANSKI, M.D., JEROME S. NOSANCHUK, M.D., JOSEPH BAUBLIS, M.D., PH.D. and JOHN F. HOLT, M.D.Audio Available | Share

Cerebro-hepato-renal syndrome of Zellweger.

In 1964, Bowen et al 1 described two siblings with congenital abnormalities including (1) marked hypotonia, (2) multiple renal cortical cysts, (3) glaucoma, (4) hepatomegaly, (5) hypoprothrombinemia, (6) developmental abnormalities of the brain, (7) congenital stippled epiphyses, and (8) a clinical appearance suggestive of Down's syndrome. Since the sibs in this family were Zellweger's patients, his name is now used for the designation of this syndrome. In the present paper two siblings are recorded who display similar clinical features. The purpose of this article is to show some other unusual features of this syndrome and to point out close similarities as well as differences between this condition and chondrodystrophia calcificans congenita (Conradi's disease). Report of Cases Case1.—This child was born on Aug 13, 1967, at term after a normal pregnancy, labor, and delivery, weighing 4,092 gm (9 lb). Her parents were healthy, unrelated Caucasians, with an unremarkable family history.

Chondrodystrophia calcificans congenita (dysplasia epiphysalis punctata). Recognition of the clinical picture.

Chondrodystrophia calcificans congenita is a poorly understood and infrequently recognized condition. Early diagnosis is important for genetic counseling and proper management. Two living patients and three autopsied cases were studied. All had pathognomonic facies with deficient nasal bones producing a saddle nose deformity, micromelia, rhizomelia, and characteristic roentgenograms in the first year of life with punctate deposits of calcium in the preosseous and osseous cartilage of the body. Neurological manifestations were common. One with cerebral atrophy had spastic diplegia, optic atrophy, and severe psychomotor retardation, and another had a Dandy-Walker malformation. Cataracts, congenital heart disease, joint contractures, dislocated hips, skin rash with alopecia, and failure to thrive resulting in early death were also observed. Multisystem involvement suggests an underlying inborn error of metabolism.

Conradi's disease: Chondrodystrophia calcificans congenita, congenital stippled epiphyses

A case of Conradi's disease (chondrodystrophia calcificans congenita, congenital stippled epiphyses) is reported in which the evolution of the disease was followed for 15 years. At birth the patient showed stippling of the epiphyses, abnormalities of the vertebral bodies, shortening of the right femur, bilateral congenital cataracts, saddle-nose deformity, and blotchy erythema of the skin and scalp. By the age of 6 months most of the epiphyseal stippling had disappeared and the vertebral column abnormalities had begun to produce kyphosis. By 15 years of age she had severe kyphoscoliosis, marked shortening of the right leg, short stature, cicatricial alopecia, coarse and lusterless hair, follicular atrophoderma, saddle-nose deformity, cataracts, irregular dentition, and low normal intelligence. Despite the early disappearance of epiphyseal stippling, recognition of the associated abnormalities may allow diagnosis of Conradi's disease in later life.

Chondrodystrophia Calcificans Congenita

Historical CHONDRODYSTROPHIA calcificans congenita is a rare disorder of bone, occurring in infants, which is characterized by the radiographic manifestation of discrete calcific densities in hyaline cartilage. The disease belongs in the group of multiple epiphyseal dysplasias. 1 The first pathological description was that of Langhans in 1893. 2 The original radiographic description of chondrodystrophia calcificans congenita was by Conradi 3 in a newborn female. After a lapse of 20 years the second case was reported in a male infant. 4 Since then sporadic cases have been reported from all over the world. A total of approximately 110 cases have been reported over a period of 50 years by nearly as many authors thus indicating its rare occurrence. At least 60% of the total number of cases have been reported in the past 15 years and nearly 10% of the total number of cases in the past five years. This

CHONDRODYSTROPHIA CALCIFICANS CONGENITA

A case of chondrodystrophia calcificans congenita in a newborn infant, born of a hypothyroid mother who had episodes of tetany during pregnancy, is reported. On the basis of a review of significant findings in 88 cases reported in the world literature the following conclusions are drawn. Chondrodystrophia calcificans congenita is a disorder that is well established at the time of birth. The diagnosis is based primarily on roentgenologic findings; it may be missed either if insufficient indication for radiologic investigation is present or if radiologic investigation is delayed beyond 4 years of age, when the epiphyses begin to fuse. A possible relationship between this disorder and dysplasia epiphysialis multiplex is indicated by the similarity in the radiologic features of each and the inability to differentiate between the two, once epiphysial fusion has commenced. One wonders whether the reported cases of dysplasia epiphysialis multiplex may represent partial fusion in chondrodystrophia calcificans congenita. Further pathologic investigation is necessary to elucidate this point. Maternal hypothyroidism may have a teratogenic role in this disorder, as in other congenital anomalies. In those patients surviving infancy and childhood, the prognosis for useful function is good if anomalies of other systems are not present. The skeletal deformities can be managed by orthopedic surgery, and the cataracts can be extirpated.

Ocular involvement in chondrodystrophia calcificans congenita punctata.

Chondrodystrophia fetalis hypoplastica (Conradi,11914), epiphysial dysplasia puncticularis,2calcinosis universalis,4epiphyseal dysplasia punctata,5chondrodystrophia calcificans congenita,6metaphyseal dyscrasia,7congenital stippled epiphyses,8and chondrodysplasia calcificans congenita punctata are names that were coined at one time or another to designate a congenital syndrome which includes, among other things, a premature generalized deposition of calcium salt in discrete foci in the regions of enchondral ossification in the skeletal framework. However, since Conradi first alerted the medical profession to this syndrome more information has accumulated, which, though still far from clarifying our understanding of this disease, has enabled us to appreciate not only that this syndrome is a chondrodystrophy, although this is one of its prominent manifestations, but also that not all calcified stipplings of the epiphvses belong to this syndrome. The radiologists were the first to report this condition, because of its characteristic x-ray appearance; later

CHONDRODYSTROPHIA CALCIFICANS CONGENITA

In summary, the authors feel that this case, presented roentgenographically, demonstrates, See Images in the PDF file as in a slow-motion picture, the uninterrupted course of events in chondrodystrophia calcificans congenita. The sequence of events leading to fusion of the areas of stippling of the epiphyses is demonstrated. It appears that there is a definite variation in the degree of involvement in the different cases reported, and that those cases with marked involvement and with associated anomalies have a poorer prognosis. The authors feel that the manifestations constitute a definite chondrodysplasia with variation in potentiality in regard to the eventual effect on completion of development.

A hereditary factor in chondrodystrophia calcificans congenita.

CHONDRODYSTROPHIA calcificans congenita is a rare congenital condition diagnosed by the radiologic demonstration of multiple punctate calcine epiphysial deposits in an infant who may also have one or more of a variety of other defects. The observation of this rare disease in 2 siblings led us to consider the possibility that it was hereditary, and an analysis of the available family data in the literature was therefore undertaken from this point of view.CharacteristicsThe disease was first described by Conradi,1 who considered it a form of chondrodystrophia fetalis hypoplastica. It was named chondrodystrophia calcificans congenita by Hünermann2 and has . . .

Chondrodystrophia calcificans congenita

Summary A case of chondrodystrophia calcificans congenita is presented with roentgenographic and photographic evidence. It represents the twenty-fourth instance to be reported, although others may have been reported under different names. It must be considered a dystrophy of bones having their origin in cartilage and involving the epiphyseal ends of long bones with stippled calcium deposits; other bones where cartilage is a precursor may similarly be involved. It is particularly notable in the epiphyseal centers of the small bones of the hands and feet. Chondrodystrophic changes in the long bones are noted and often the fibular length exceeds that of the tibia.

Chondrodystrophia Calcificans Congenita

The roentgenologist in the daily practice of his specialty expects to encounter manifestations of disease that are familiar and well known. At times, however, without warning he is confronted by a rare and unusual problem; such an experience can provoke a thrill analogous to that of an explorer discovering new lands or of a student acquiring new and unexpected knowledge. The writer was recently startled in such a manner when he came upon a most bizarre roentgenogram of a newborn infant with extensive congenital anomalies. The exact diagnosis was not immediately apparent and paging through the standard textbooks available yielded a single brief but thorough description, under the designation Chondrodystrophia calcificans congenita. This appears in Dr. Bradley Coley's excellent book on Neoplasms of Bone (5). A review of the world literature was then instituted, revealing a meager total of 22 cases. It is entirely possible, however, that more examples may have been reported under different names, as references were discovered only in the American, British, and German publications, where a considerable confusion in nomenclature already exists. Besides the present name, which was given to the disease by Raap (14) in 1942, it has been called, also, hypoplastic fetal chondrodystrophy, dysplasia epiphysialis puncticularis or punctata, and in one instance was even described under the name of calcinosis universalis.2 Chondrodystrophia calcificans congenita belongs to the large and confusing group of bony and cartilaginous embryonic malformations comprising the chondrodystrophies, which has already been subdivided into many ill-defined secondary classifications, frequently merging imperceptibly into one another. It possesses, however, many characteristics not found in any other group, which make it easy to class the condition in its own special niche. Conradi (6) deserves the honor of being the first to discover and describe the disease, in 1914, and none of the subsequent observers have added materially to his description. In every instance, the disease has been discovered soon after birth, because of obvious deformities, or in the early months or years of life because the general health and growth appeared substandard. The diagnosis is made exclusively by roentgen studies and is based first and foremost upon the discovery of fine stippled, diffuse, dense calcifications in the regions of the epiphyses at any point of the skeleton. Fairbank (8, 9) describes the appearance as “suggestive of that produced by flicking paint from a brush to a clean surface.” The shadows are usually discrete and sharp, only a few millimeters in diameter, although there is a somewhat indefinite smudge of semicalcified amorphous material in the background. These calcifications are encountered anywhere in the skeleton where cartilage is normally found.

CONGENITAL STIPPLED EPIPHYSES

Two infants, one full term and the other premature, presented symptoms of "congenital stippled epiphyses" (dysplasia epiphysialis punctata, chondrodystrophia calcificans congenita). The outstanding characteristics of the entity are the presence of multiple, discrete, dense calcifications in many cartilaginous epiphyses and apophyses. The diagnosis, necessarily, rests upon roentgenographic examinations.

Follicular Atrophoderma and Pseudopelade Associated with Chondrodystrophia Calcificans Congenita

In 1943 Miescher (1) reported peculiar atrophic changes of the skin of body and scalp in a 7 year old Swiss girl. There were spots of atrophic alopecia on the scalp, and on the extremities and trunk irregular zones in which dimple-like depressions were found at the place of follicular orifices. The child was very small and had thoracic kyphoscoliosis, lumbar lordosis, luxation of the right hip, a considerably shortened right leg, and a moderately shortened left arm. Five years earlier, Burckhardt (2) has described the skeletal condition of the same child, then 2 years old, as chondrodystrophia foetalis calcarea. In the English speaking countries this disease is called chondrodystrophia calcificans congenita, chondro-osseous dystrophy with punctate epiphyseal dysplasia, or similar variations.