New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities

A. Battaglia; A. R. Ferrari; E. Orsitto; G. Gibilisco; G. Neri

doi:10.1097/00019605-199601000-00006

New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities

A. Battaglia, A. R. Ferrari, E. Orsitto, G. Gibilisco, G. Neri

Fondazione Stella Maris

Research output: Contribution to journal › Article

Abstract

We describe two sibs, one male and one female, presenting a new autosomal recessive multiple congenital anomalies/mental retardation syndrome of 'coarse face', microcephaly, moderate to severe mental retardation, epilepsy and skeletal abnormalities.

Original language	English
Pages (from-to)	41-47
Number of pages	7
Journal	Clinical Dysmorphology
Volume	5
Issue number	1
DOIs	https://doi.org/10.1097/00019605-199601000-00006
Publication status	Published - 1996

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Keywords

Autosomal recessive inheritance
Epilepsy
Mental retardation syndrome
Multiple congenital anomalies
Skeletal dysplasias

ASJC Scopus subject areas

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

Cite this

Battaglia, A., Ferrari, A. R., Orsitto, E., Gibilisco, G., & Neri, G. (1996). New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities. Clinical Dysmorphology, 5(1), 41-47. https://doi.org/10.1097/00019605-199601000-00006

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Access to Document

10.1097/00019605-199601000-00006