title: Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile.
abstract: We describe a patient presenting with a combination of dental agenesis, agenesis of the distal phalanx of the fifth finger, small, dystrophic toenails, permanent facial erythema, short stature and mild mental retardation. The neuropsychological profile of this patient which was studied in detail and showed a significant discrepancy between verbal and performance IQ. We discuss the differential diagnosis of this case and conclude that our patient's condition could represent a new syndrome.
authors.affiliation: Department of Child Neurology and Psychiatry, IRCCS "C. Mondino" Foundation, University of Pavia, Italy Child Neuropsychiatry Unit, University of Insubria, Varese, Italy Dermatological Institute, University of Pavia, Italy Medical Genetics, IRCCS S. Matteo and University of Pavia.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Lanzi
authors.forename: Cristiano
authors.initials: C
authors.lastname: Termine
authors.forename: Chiara
authors.initials: C
authors.lastname: Capsoni
authors.forename: Marina
authors.initials: M
authors.lastname: Zoppello
authors.forename: Severino A
authors.initials: SA
authors.lastname: Sacchi
authors.forename: Cesare
authors.initials: C
authors.lastname: Danesino
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D003937:Diagnosis, Differential; D004890:Erythema / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities*; D006130:Growth Disorders / Q000473:pathology*; D013006:Growth Hormone / Q000172:deficiency; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D008297:Male; D009264:Nails, Malformed; D013577:Syndrome; D014071:Tooth Abnormalities / Q000473:pathology*
chemical_list: D013006:Growth Hormone