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K. Kozłowski, V. Mayne, D. Danks (1973)
Precocious Type of OsteodysplasiaActa Radiologica, 14
DM Danks, V Mayne, K Kozlowski (1974)
A precocious, autosomal recessive type of osteodysplasty, 10
K Kozlowski, V Mayne, DM Danks (1973)
Precocious type of osteodysplasia. A new autosomal recessive form, 14
A. Fryer (1991)
London Dysmorphology DatabaseJournal of Medical Genetics, 28
<h5>To the Editor:</h5> We report on two siblings with a precocious type of osteodysplasia (MIM 259250). To our knowledge, they are the fourth and fifth published patients with this rare form of osteodysplasia. The patients were the offspring of a healthy, non‐consanguineous German/Italian couple. The proposita had severe shortness of all extremities and a narrow thoracic cage. During the second pregnancy ultrasound examinations revealed short extremities. This pregnancy was terminated after 23 weeks of gestation. The first pregnancy was uneventful until the 38th week. A caesarean section was performed because green amniotic fluid was found. Apgar scores were 7/9/10. All neonatal measurements were below the 3rd percentile [W: 1,850 g (–3 SD), L: 31 cm (–6 SD), OFC: 31 cm (–2 SD)]. The proposita showed a large head relative to the short body, a short neck, and severely shortened extremities, especially the digits and toes. The thorax was narrow, with a mobile sternum. The girl required oxygen throughout her life, and she died of pneumonia at the age of 5½ months. No autopsy was performed. Chromosome analysis was 46, XX normal female (Fig. 1 ). 1 Proposita at the age of 3 months. Note the flat face with
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 2002
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