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Prenatal diagnosis of recurrent Larsen syndrome: Further definition of a lethal variant
Author(s) -
Mostello Dorothea,
Hoechstetter Leah,
Bendon Robert W.,
Dignan Peter St. J.,
Oestreich Alan E.,
Siddiqi Tariq A.
Publication year - 1991
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970110403
Subject(s) - pulmonary hypoplasia , medicine , prenatal diagnosis , hypoplasia , pediatrics , autosomal recessive inheritance , genetic counseling , fetus , pregnancy , surgery , genetics , biology , gene
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.