title: Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome.
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.
authors.affiliation: Laboratorio di Ematologia, IV Divisione di Pediatria, Istituto G. Gaslini, Genova, Italy.
authors.forename: P G
authors.initials: PG
authors.lastname: Mori
authors.forename: M
authors.initials: M
authors.lastname: Priolo
authors.forename: M
authors.initials: M
authors.lastname: Lerone
authors.forename: M
authors.initials: M
authors.lastname: Pasino
authors.forename: F
authors.initials: F
authors.lastname: Caroli
authors.forename: R
authors.initials: R
authors.lastname: Cusano
authors.forename: M
authors.initials: M
authors.lastname: Seri
authors.forename: M C
authors.initials: MC
authors.lastname: Silengo
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D005199:Fanconi Anemia / Q000235:genetics / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D013577:Syndrome