TY - JOUR
T1 - Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review
AU - Zelante, L.
AU - Torricelli, F.
AU - Calvano, S.
AU - Mingarelli, R.
AU - Dallapiccola, B.
PY - 1991
Y1 - 1991
N2 - A case of r(14) chromosome is described and new information is added to a previously reported patient. The r(14) syndrome is reviewed on the basis of 37 known patients. The major features include prenatal and postnatal growth retardation, mental retardation, seizures, microcephaly, and distinct facial dysmorphism, including elongated face, narrow palpebral fissures, epicanthus, and broad nasal bridge. Other characteristic anomalies found only in some patients are retinal anomalies, lymphoedema of hands and feet, and proneness to pulmonary infections.
AB - A case of r(14) chromosome is described and new information is added to a previously reported patient. The r(14) syndrome is reviewed on the basis of 37 known patients. The major features include prenatal and postnatal growth retardation, mental retardation, seizures, microcephaly, and distinct facial dysmorphism, including elongated face, narrow palpebral fissures, epicanthus, and broad nasal bridge. Other characteristic anomalies found only in some patients are retinal anomalies, lymphoedema of hands and feet, and proneness to pulmonary infections.
KW - abnormal pigmentation of retinae
KW - chromsome 14
KW - edema
KW - malformation syndrome
KW - ring chromosome
KW - seizures
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M3 - Article
C2 - 1746891
AN - SCOPUS:0026009081
VL - 34
SP - 93
EP - 97
JO - Annales de Genetique
JF - Annales de Genetique
SN - 0003-3995
IS - 2
ER -