TY - JOUR
T1 - Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome
AU - Mori, Pier Giorgio
AU - Priolo, Manuela
AU - Lerone, Margherita
AU - Pasino, Mirella
AU - Caroli, Francesco
AU - Cusano, Roberto
AU - Seri, Marco
AU - Silengo, Margherita Cirillo
PY - 1999/11/5
Y1 - 1999/11/5
N2 - 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.
AB - 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.
KW - 19q13 region
KW - Autosomal recessive inheritance
KW - Complex disorder
KW - Consanguinity
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U2 - 10.1002/(SICI)1096-8628(19991105)87:1<36::AID-AJMG7>3.0.CO;2-2
DO - 10.1002/(SICI)1096-8628(19991105)87:1<36::AID-AJMG7>3.0.CO;2-2
M3 - Article
C2 - 10528244
AN - SCOPUS:0033527620
VL - 87
SP - 36
EP - 39
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -