TY - JOUR T1 - Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases JF - Journal of Medical Genetics JO - J Med Genet SP - 195 LP - 200 DO - 10.1136/jmg.40.3.195 VL - 40 IS - 3 AU - V Cormier-Daire AU - A L Delezoide AU - N Philip AU - P Marcorelles AU - K Casas AU - Y Hillion AU - L Faivre AU - D L Rimoin AU - A Munnich AU - P Maroteaux AU - M Le Merrer Y1 - 2003/03/01 UR - http://jmg.bmj.com/content/40/3/195.abstract N2 - Opsismodysplasia (opsismos in Greek = late) is a rare chondrodysplasia, first described in 1977 by Zonana et al1 as a unique chondrodysplasia and designated “opsismodysplasia” only in 1984.2 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.1–6 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. Seven male and five female cases originating from nine families of French (4/9), German, (1/9), and Algerian origin (4/9) were included in the study. All affected cases presented with the following inclusion criteria: (1) major delay in epiphyseal ossification, (2) platyspondyly, (3) metaphyseal cupping, and (4) very short metacarpals and phalanges. Half of the cases were prenatally diagnosed during ultrasound follow up of the pregnancies and half of them were diagnosed postnatally. Pregnancies were terminated between 15 and 29 weeks’ of gestation. For chondro-osseous studies, the samples were embedded in paraffin and HES routinely stained after fixation in 4% formaldehyde and decalcification with EDTA. Key points We present the clinical, radiographic, and histological findings of 11 new cases of opsismodysplasia belonging to eight families. All cases presented with dysmorphic features, large anterior fontanelle, short hands and feet, and short stature. Radiographic features included very delayed bone maturation, marked shortness of the hand and foot bones with metaphyseal … ER -