Prenatal diagnosis of recurrent Larsen syndrome: Further definition of a lethal variant |
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Authors: | Dorothea Mostello MD Leah Hoechstetter Robert W Bendon Peter St J Dignan Alan E Oestreich Tariq A Siddiqi |
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Institution: | 1. Departments of Obstetrics and Gynecology and Pathology and Laboratory Medicine, University of Cincinnati Medical Center, Cincinnati, Ohio, U.S.A.;2. Division of Human Genetics and Department of Radiology, Children's Hospital Medical Center, Cincinnati, Ohio, U.S.A. |
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Abstract: | Larsen syndrome is characterized by multiple congenital joint dislocations and flattened facies. Some cases have been familial, with both autosomal dominant and recessive patterns of inheritance. Reports of a form of Larsen syndrome, lethal in the neonatal period, are reviewed. We present a family in which recurrence of the syndrome was diagnosed prenatally, but a lethal outcome again resulted despite preparation for anticipated perinatal complications. Because of the wide clinical variation and the lack of a known metabolic defect, delineation between the various forms of Larsen syndrome is difficult. While the lethal variant appears to be a combination of the Larsen phenotype and pulmonary hypoplasia, other features noted in the lethal cases, such as abnormal palmar creases and laryngotracheomalacia, are also seen in patients with Larsen syndrome who survive. |
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Keywords: | Larsen syndrome Multiple congenital dislocations Prenatal diagnosis Knee dislocation Pulmonary hypoplasia Fetal skeletal abnormalities |
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