Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

Pier Giorgio Mori, Manuela Priolo, Margherita Lerone, Mirella Pasino, Francesco Caroli, Roberto Cusano, Marco Seri, Margherita Cirillo Silengo

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a girl with congenital hypoplastic anaemia, 'coarse' face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingernails, low birth weight, failure to thrive, and repeated upper respiratory tract infections. Based on family history, we suspect that hypoplastic anaemia and the same multiple congenital anomalies-mental retardation syndrome (MCA/MR) were also present in this sister. To the best of our knowledge, this patient represents the first report of congenital hypoplastic anaemia and such a complex MCA/MR syndrome, probably inherited as an autosomal recessive trait.

Original languageEnglish
Pages (from-to)36-39
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume87
Issue number1
DOIs
Publication statusPublished - Nov 5 1999

Keywords

  • 19q13 region
  • Autosomal recessive inheritance
  • Complex disorder
  • Consanguinity

ASJC Scopus subject areas

  • Genetics(clinical)

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