Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.
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.
Philip
N
N
Department of Medical Genetics, Hôpital d'Enfants de la Timone, Marseille, France.
Andrac
L
L
Moncla
A
A
Sigaudy
S
S
Zanon
N
N
Lena
G
G
Choux
M
M
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