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

doi:10.1097/00019605-200504000-00011

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

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	105-107
Number of pages	3
Journal	Clinical Dysmorphology
Volume	14
Issue number	2
DOIs	https://doi.org/10.1097/00019605-200504000-00011
Publication status	Published - Apr 2005

Keywords

Distal phalanx
Facial erythema
Mental retardation
Short stature

ASJC Scopus subject areas

Genetics(clinical)
Pediatrics, Perinatology, and Child Health
Anatomy

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10.1097/00019605-200504000-00011

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AU - Termine, Cristiano

AU - Capsoni, Chiara

AU - Zoppello, Marina

AU - Sacchi, Severino A.

AU - Danesino, Cesare

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N2 - 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.

AB - 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.

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KW - Mental retardation

KW - Short stature

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

Abstract

Keywords

ASJC Scopus subject areas

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