Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile

Giovanni Lanzi; Cristiano Termine; Chiara Capsoni; Marina Zoppello; Severino A Sacchi; Cesare Danesino

Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile

Clin Dysmorphol. 2005 Apr;14(2):105-107.

Authors

Giovanni Lanzi¹, Cristiano Termine, Chiara Capsoni, Marina Zoppello, Severino A Sacchi, Cesare Danesino

Affiliation

¹ 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.

PMID: 15770135

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics
Abnormalities, Multiple / pathology
Bone and Bones / abnormalities
Child
Diagnosis, Differential
Erythema / pathology*
Face / abnormalities
Fingers / abnormalities*
Growth Disorders / pathology*
Growth Hormone / deficiency
Heart Defects, Congenital / pathology
Humans
Intellectual Disability / diagnosis
Karyotyping
Kidney / abnormalities
Kidney / pathology
Male
Nails, Malformed
Syndrome
Tooth Abnormalities / pathology*

Substances

Growth Hormone