Chondrodystrophia Congenita Punctata (Conradi's Disease)

Allansmith, Mathea R.; Senz, Edward H.

doi:10.1001/archpedi.1960.04020040111016

Cited by 32 publications

(5 citation statements)

References 24 publications

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“…However, since the majority of reports relate to observations on newly born children and infants below 6 months of age, it is difficult to classify these patients in terms of any of the suggested types of ch.p. The gynaecotropia and the frequent concurrence of ichthyosis and cataract have already been noted in several older reports (Curth 1949, Mosekilde 1952, Jeune et al 1953, Allansmith & Senz 1960. Fritsch & Manzke (1963), for instance, found a preponderance of 49 females:34 males (= 59 %:41 %).…”

Section: Arguments F O R Sex-linked Dominant Type Of Chp (With Lethmentioning

confidence: 72%

Dominant sex‐linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

1980

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This paper suggests that there is probably a dominant, sex‐linked type of chondrodysplasia punctata. Clinical data are reported for three girls with such a disorder. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatological findings in the children include crythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life. Later on, patterned ichthyosis, follicular atrophoderma, coarse, lusterless hair and cicatricial alopecia become evident. It is assumed that about one fourth of all cases with chondrodysplasia punctata reported in the literature belong to the dominant sex‐linked type.

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Section: Arguments F O R Sex-linked Dominant Type Of Chp (With Lethmentioning

confidence: 72%

Dominant sex‐linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

1980

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“…Common to the five patients reported and to a large number of well documented cases in the litera¬ ture are the following constant signs: (1) saddle nose deformity, (2) hy¬ pertelorism, (3) frontal bossing, (4) high-arched palate, (5) short neck, (6) short stature. In addition, a group of variable signs occur.…”

Section: Resultsmentioning

confidence: 94%

“…In addition, a group of variable signs occur. These signs include: (1) rhizomeha and/or micromeha, (2) flexion contractures, (3) congenital dislocation of the hip, (4) cataracts, (5) optic atrophy, (6) varying degrees of psychomotor re¬ tardation, (7) skin rash, (8) renal anomalies, (9) congenital heart dis¬ ease. The combination of three or more variable signs with the full complement of constant signs is high¬ ly suggestive of chondrodystrophia calcificans congenita.…”

Section: Resultsmentioning

confidence: 99%

Chondrodystrophia Calcificans Congenita (Dysplasia Epiphysalis Punctata)

Tasker¹,

Mastri²,

Gold³

1970

Am J Dis Child

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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\x=req-\ 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.Si nce Conradi1 described the first case of this condition in 1914 un¬ der the name, chondrodystrophia fetalis hypoplastica, the diagnosis of chondrodystrophia calcificans con¬ genita has been established primarily upon radiological evidence of tiny punctate calcifications in the region of epiphyseal centers. A review of the literature 2~4 indicates that the of age. Other than distortion of some of the affected epiphyses, roentgeno¬ grams are of no value as a diagnostic tool in older children. Yet, until now, it has been virtually impossible to diagnose chondrodystrophia calcificans congenita unless the char¬ acteristic stippling has been pres¬ ent.5 A varied chnical picture is re¬ sponsible for this "hit or miss" de¬ tection of the disorder. Although several authors68 have attempted to define the chnical manifestations of this entity, no specific chnical pic¬ ture is available. A study of more than 100 cases reported in the litera¬ ture 5"15 revealed a bewildering va¬ riety of manifestations indicative of multisystem involvement which in¬ cludes not only the skeletal but the cardiovascular, cutaneous, renal, and central nervous systems (CNS) as well.In an attempt to clarify the clinical picture of chondrodystrophia calcificans congenita, we have devised a set of presenting signs and symptoms highly suggestive of this entity. These manifestations have been di¬ vided into a constant group com¬ prised of those most commonly en¬ countered and a variable group. We consider the combination of the con¬ stant group with three or more vari¬ able group findings to be suggestive evidence of this condition. Our out¬ line is based on a review of the literature and a study of two hving patients and three autopsied cases observed at the Columbia-Presby¬ terian Medical Center (CPMC). Report of CasesCase 1.-This patient (Fig 1) was re¬ ferred to CPMC at 18 months of age for evaluation of psychomotor retardation. This was evidenced by his inability to sit alone, bear weight on his legs, see, speak, or hear. The gestation period had been full term and the delivery normal, with a birth weight of 3,740 gm (8 lb 4 oz), ...

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“…The most outstanding clinical feature in this disorder is rhizomelia involving only the upper extremities. Rhizomelia may be seen in various genetic syndromes, most commonly in chondroplasia punctata Type I1 (Fraser & Scriver 1954, Allansmith & Senz 1960, Tasker et al 1970, Viseskul et al 1974, Gilbert et al 1976) and achondroplasia (Langer et al 1976, Bailey 1970, Yamada et al 1981, but also in such rare conditions as a form of multiple epiphyseal dysplasia (Felman 1963) and a variant of brachydactyly E with spondyloepiphysealspondyloperipheral dysplasia. Of these disorders our proband only shares a few features with those seen in chondroplasia punctata Type 11.…”

Section: Discussionmentioning

confidence: 99%

A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations

et al. 1986

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An Arab family is reported in which the proband and two affected sibs had bilateral rhizomelia of the humerus and other skeletal, craniofacial and cardiac abnormalities. Since all three affected sibs died during early childhood, this may be a lethal condition. We believe this constellation of findings which has not been previously described represents a new syndrome, most probably transmitted as an autosomal recessive disorder.

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Chondrodystrophia Congenita Punctata (Conradi's Disease)

Cited by 32 publications

References 24 publications

Dominant sex‐linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

Dominant sex‐linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

Chondrodystrophia Calcificans Congenita (Dysplasia Epiphysalis Punctata)

A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations

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