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 › peer-review

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

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

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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.",

keywords = "Autosomal recessive inheritance, Epilepsy, Mental retardation syndrome, Multiple congenital anomalies, Skeletal dysplasias",

author = "A. Battaglia and Ferrari, {A. R.} and E. Orsitto and G. Gibilisco and G. Neri",

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AU - Ferrari, A. R.

AU - Orsitto, E.

AU - Gibilisco, G.

AU - Neri, G.

PY - 1996

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N2 - 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.

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KW - Autosomal recessive inheritance

KW - Epilepsy

KW - Mental retardation syndrome

KW - Multiple congenital anomalies

KW - Skeletal dysplasias

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

Abstract

Keywords

ASJC Scopus subject areas

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