Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome
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 fingerna...
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| Veröffentlicht in: | American journal of medical genetics 1999-11, Vol.87 (1), p.36-39 |
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| container_title | American journal of medical genetics |
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| creator | Mori, Pier Giorgio Priolo, Manuela Lerone, Margherita Pasino, Mirella Caroli, Francesco Cusano, Roberto Seri, Marco Silengo, Margherita Cirillo |
| description | 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. Am. J. Med. Genet. 87:36–39, 1999. © 1999 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1096-8628(19991105)87:1<36::AID-AJMG7>3.0.CO;2-2 |
| format | Article |
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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. Am. J. Med. 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J. Med. Genet</addtitle><description>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. Am. J. Med. 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| subjects | 19q13 region Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology autosomal recessive inheritance Biological and medical sciences Child Child, Preschool Chromosomes, Human, Pair 19 - genetics complex disorder Complex syndromes consanguinity Fanconi Anemia - genetics Fanconi Anemia - pathology Female Follow-Up Studies Genotype Humans Infant Intellectual Disability - genetics Intellectual Disability - pathology Medical genetics Medical sciences Syndrome |
| title | Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome |
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