Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus.
We report a sporadic case of Lenz-Majewski syndrome (LMS) with newly recognized manifestations including facial palsy, cleft palate and hydrocephalus developing later in infancy. The clinical course of the patient and neuroimaging studies are described. Increased intracranial pressure was recognized and treated early with the aim of preventing neurological morbidity.
Wattanasirichaigoon
Duangrurdee
D
Department of Pediatrics Department of Radiology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Visudtibhan
Anannit
A
Jaovisidha
Suphaneewan
S
Laothamatas
Jiraporn
J
Chunharas
Amornsri
A
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis*; D005158:Facial Paralysis / Q000175:diagnosis*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D009422:Nervous System Diseases / Q000175:diagnosis / Q000473:pathology; D010641:Phenotype; D012867:Skin / Q000473:pathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed