Chondrodystrophia Calcificans Congenita (Dysplasia Epiphysalis Punctata)

Abstract

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), ...

Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

“…The hair is coarse and lusterless. Alopecia, cataracts, and patchy skeletal abnormalities are also seen [Tasker et al, ; Savarirayan et al, ]. Cardiac and dental abnormalities can also be seen.…”

Mucopolysaccharides in osteochondrodysplasias

“…Chondrodysplasia punctata (formerly chondrodystrophia calcificans congenita) has been associated with increased polysaccharide content of both cartilage and the lens of the eye (Melnick 1965). Quantitative determinations of MPS were, however, abnormal in only one of these infants (Tasker et al 1970). Quantitative determinations of MPS were, however, abnormal in only one of these infants (Tasker et al 1970).…”

Follicular atrophoderma and basal cell carcinomas: the Bazex syndrome

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