Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

BMC Medical Genetics
N RiiseB Paus

Abstract

Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the gene that encodes the connective tissue protein, filamin B (FLNB). Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by arterial aneurysms, dissections and tortuosity, and skeletal, including craniofacial, manifestations. Mutations in five genes involved in the transforming growth factor beta (TGF-β) signaling pathway cause five types of LDS. Stickler syndrome is a genetically heterogeneous arthro-ophthalmopathy caused by defects in collagen, exhibiting a wide specter of manifestations in connective tissue. A rare case is reported that was diagnosed with all these three hereditary connective tissue disorders. A 19 year-old, Norwegian male with a clinical diagnosis of Larsen syndrome and with healthy, non-consanguineous parents attended a reference center for rare connective tissue disorders. Findings at birth were hypotonia, joint hypermobility, hyperextended knees, adductovarus of the feet, cervical kyphosis, craniofacial abnormalities, and an umbilical hernia. From toddlerhood, h...Continue Reading

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Citations

Oct 23, 2019·Genetic Testing and Molecular Biomarkers·Marita Knudsen PopeBenedicte Paus
Mar 21, 2020·Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists)·Wenmin SunQingjiong Zhang
Mar 12, 2021·BMC Oral Health·Madoka YasunagaSachio Tamaoki
May 12, 2021·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Jun W JeonHung Jeffrey Kim

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Methods Mentioned

BETA
dissections
exome sequencing

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