Cutis laxa-Marfanoid syndrome

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A rare genetic developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa marfanoid habitus with arachnodactyly pulmonary emphysema cardiac anomalies and diaphragmatic hernia. Mild contractures of the elbows hips and knees with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Cutis laxa-Marfanoid syndrome?

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