Opsismodysplasia: A new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae

Abstract

The name opsismodysplasia is proposed for a new chondrodysplasia, which was studied in three patients. Clinically, the condition is recognized at birth on the basis of shortness, short hands, and facial abnormalities with a short nose and a depressed bridge of nose. The most characteristic radiographic signs are: very retarded bone maturation; marked shortness of the bones of the hands and of the feet with concave metaphyses; and thin, lamellar vertebral bodies. The growth cartilage studied in one case showed a wide hypertrophic area containing thick connective tissue septa, irregular provisional calcification, and vascular invasion. Type I collagen was detected in the hypertrophic area by immunohistochemical and microchemical tests. The transmission of opsismodysplasia is probably autosomal recessive.

Additional case of opsismodysplasia supporting autosomal recessive inheritance

“…In our case the parents were first cousins. We think that this finding adds to the observation by Maroteaux et al [1984] of 2 sibs of different sex and indicates that an autosomal recessive inheritance pattern is very likely.…”

“…Subsequently, Maroteaux et al [1984] described 3 cases in greater detail and applied the term opsismodysplasia. The first patient, a 21-month-old boy, had been described by Zonana et al 119771.…”

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

“…Opsismodysplasia shows some similarities with the present cases such as severe platyspondyly, rhizomelic shortening of the limbs, short fingers, and frontal bossing, but the phenotype is not lethal and transmission is probably autosomal recessive [Maroteaux et al, 1984;Beemer and Kozlowski, 1994].…”

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

“…2 The disorder is characterised clinically by micromelia with extremely short hands and feet and respiratory distress responsible for death in the first few years of life. 2 The main radiological features include severe platyspondyly, major delay in skeletal ossification, and metaphyseal cupping. To date, 13 cases have been reported and recurrence in sibs and/or consanguinity have suggested an autosomal recessive mode of inheritance.…”

“…To date, 13 cases have been reported and recurrence in sibs and/or consanguinity have suggested an autosomal recessive mode of inheritance. [1][2][3][4][5][6] Here, we describe the clinical, radiological and chondro-osseous findings of 12 previously unreported cases in nine families. We show that opsismodysplasia is not a consistently lethal condition and we identify the severity of the delayed bone ossification as an important feature, distinct from other forms of spondylo(epi)metaphyseal dysplasias.…”