title: Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.
abstract: We describe a 19-year-old boy who presented with facial dysmorphism, multiple lateral meningoceles, skeletal abnormalities and normal intelligence. Neurofibromatosis and Marfan syndrome were excluded. Electron microscopy of the skin showed non-specific abnormalities suggesting a connective tissue disorder. The features of this boy closely resemble those in a mother and daughter with Lehman syndrome.
authors.affiliation: Department of Medical Genetics, Hôpital d'Enfants de la Timone, Marseille, France.
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: L
authors.initials: L
authors.lastname: Andrac
authors.forename: A
authors.initials: A
authors.lastname: Moncla
authors.forename: S
authors.initials: S
authors.lastname: Sigaudy
authors.forename: N
authors.initials: N
authors.lastname: Zanon
authors.forename: G
authors.initials: G
authors.lastname: Lena
authors.forename: M
authors.initials: M
authors.lastname: Choux
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D004388:Dura Mater / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008588:Meningocele / Q000175:diagnosis*; D010026:Osteosclerosis / Q000175:diagnosis*; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013115:Spinal Canal / Q000002:abnormalities; D013118:Spinal Cord Diseases / Q000175:diagnosis; D013577:Syndrome; D014057:Tomography, X-Ray Computed