American Journal of Medical Genetics 43860-864 (1992)
Brief Clinical Report New Distinct Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome) A.E. Kan and K. Kozlowski Departments of Histopathology (A.E.K.)and Radiology (K.K.),Royal Alexandra Hospital for Children, Sydney, N.S.W., Australia
We report a third case of a rare neonatal lethal scleroticbone disorder with distinct craniofacia1 anomalies and striking radiographic and hitherto undescribed histopathologic features. The remarkable similarity between our patient and 2 recently reported infants suggests strongly a distinct entity. We propose the term Raine syndrome as a convenient identification of this disorder. o 1992 WileyLiss, Inc.
KEY WORDS: osteodysplasia, osteosclerosis, craniofacial dysmorphology INTRODUCTION The body of a newborn infant with multiple congenital abnormalities was referred to us for autopsy and postmortem radiographic examination. We were struck by the remarkable similarities between this infant and 2 others reported as an unidentified lethal syndrome with generalized osteosclerosis and craniofacial dysplasia [Raine et al., 1989; Kingston et al., 19911. CLINICAL REPORT This female infant was born normally to a 36-year-old woman after 37 weeks gestation. There was no consanguinity or family history of bone disorders or birth defects. The pregnancy, the first in the mother’s second marriage, was normal and free of infection and drug exposure.Two children from her previous marriage were normal and well. The parents were marathon runners and in the early part of the pregnancy the mother had continued training. Multiple fetal anomalies were detected on ultrasonography during pregnancy. The infant weighed 2,045 g. Her Apgar scores were 1and 3 at 1 ~
Received for publication August 6, 1991; revision received November 6, 1991. Address reprint requests to Dr. A. Kan, Department of Histopathology, Royal Alexandra Hospital for Children, Camperdown, N.S.W. 2050, Australia.
0 1992 Wiley-Liss, Inc.
and 5 min, respectively. Her respirators efforts were feeble and‘ her*response to resuHcitation was unsustained. She lived for 45 min only. Unfortunately material collected for chromosome and enzyme analysis failed to grow after 29 days culture. Maternal serum calcium and alkaline phosphatase levels were normal. Autopsy was performed 3% days after death. The placenta was not available for examination.
AUTOPSY FINDINGS The infant was small for 37 weeks of gestation (weight 2,030 g and crown-heel length 44 cm). Her craniofacial abnormalities (Fig. 1) included microcephaly (head circumference of 27.7 cm,
Brief Clinical Report New Distinct Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome) A.E. Kan and K. Kozlowski Departments of Histopathology (A.E.K.)and Radiology (K.K.),Royal Alexandra Hospital for Children, Sydney, N.S.W., Australia
We report a third case of a rare neonatal lethal scleroticbone disorder with distinct craniofacia1 anomalies and striking radiographic and hitherto undescribed histopathologic features. The remarkable similarity between our patient and 2 recently reported infants suggests strongly a distinct entity. We propose the term Raine syndrome as a convenient identification of this disorder. o 1992 WileyLiss, Inc.
KEY WORDS: osteodysplasia, osteosclerosis, craniofacial dysmorphology INTRODUCTION The body of a newborn infant with multiple congenital abnormalities was referred to us for autopsy and postmortem radiographic examination. We were struck by the remarkable similarities between this infant and 2 others reported as an unidentified lethal syndrome with generalized osteosclerosis and craniofacial dysplasia [Raine et al., 1989; Kingston et al., 19911. CLINICAL REPORT This female infant was born normally to a 36-year-old woman after 37 weeks gestation. There was no consanguinity or family history of bone disorders or birth defects. The pregnancy, the first in the mother’s second marriage, was normal and free of infection and drug exposure.Two children from her previous marriage were normal and well. The parents were marathon runners and in the early part of the pregnancy the mother had continued training. Multiple fetal anomalies were detected on ultrasonography during pregnancy. The infant weighed 2,045 g. Her Apgar scores were 1and 3 at 1 ~
Received for publication August 6, 1991; revision received November 6, 1991. Address reprint requests to Dr. A. Kan, Department of Histopathology, Royal Alexandra Hospital for Children, Camperdown, N.S.W. 2050, Australia.
0 1992 Wiley-Liss, Inc.
and 5 min, respectively. Her respirators efforts were feeble and‘ her*response to resuHcitation was unsustained. She lived for 45 min only. Unfortunately material collected for chromosome and enzyme analysis failed to grow after 29 days culture. Maternal serum calcium and alkaline phosphatase levels were normal. Autopsy was performed 3% days after death. The placenta was not available for examination.
AUTOPSY FINDINGS The infant was small for 37 weeks of gestation (weight 2,030 g and crown-heel length 44 cm). Her craniofacial abnormalities (Fig. 1) included microcephaly (head circumference of 27.7 cm,
