Jarcho-Levin syndrome: prenatal diagnosis, perinatal care, and follow-up of siblings.
Jarcho-Levin syndrome (JLS), spondylothoracic or spondylocostal dysostosis, is a rare entity with variable clinical severity. This syndrome is usually diagnosed in individuals with short neck, short trunk, and short stature with multiple vertebral anomalies at all levels of the vertebral column, including "butterfly vertebrae," hemivertebrae, and fused, hypoplastic vertebrae. The small size of the thorax in newborns frequently leads to respiratory compromise and death in infancy. We report a family in which the diagnosis of JLS in a 1-year-old led to prenatal ultrasound diagnosis of JLS in a sibling. Aggressive neonatal care of the sibling, who developed respiratory failure soon after birth, led to an excellent outcome. This case confirms the utility of the prenatal ultrasound diagnosis of JLS and suggests that when the diagnosis of JLS is known prenatally, appropriate preparations can be made for specialized prenatal and postnatal care that may improve survival.
Lawson
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ME
Joint Program in Neonatology, Children's Hospital, Harvard Medical School, Boston, Mass., USA.
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Benacerraf
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B
Krauss
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D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000328:Adult; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012131:Respiratory Insufficiency / Q000209:etiology; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome; D016216:Ultrasonography, Prenatal