New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria

Marcella Zollino, Giuseppe Zampino, Pierpaolo Mastroiacovo, Paolo Mariotti, Giovanni Neri, P. Mastroiacovo, P. Mariotti, G. Neri

Risultato della ricerca: Contributo in rivistaArticolo in rivista

20 Citazioni (Scopus)

Abstract

A previously unreported X-linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X-linked dominant trait with decreased penetrance and expressivity in carrier females.
Lingua originaleEnglish
pagine (da-a)452-457
Numero di pagine6
RivistaAmerican Journal of Medical Genetics
Volume43
Stato di pubblicazionePubblicato - 1992

Keywords

  • Adolescent
  • Brain
  • Child
  • Child, Preschool
  • Face
  • Female
  • Genetic Linkage
  • Genitalia, Male
  • Humans
  • Infant
  • Intellectual Disability
  • Male
  • Muscle Hypotonia
  • Pedigree
  • Syndrome
  • X Chromosome

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