TY - JOUR
T1 - Patterns of malformation in children with congenital diaphragmatic defects
AU - Cunniff, Christopher
AU - Jones, Kenneth Lyons
AU - Jones, Marilyn C.
PY - 1990/2
Y1 - 1990/2
N2 - The medical records of 102 live-born children with a congenital diaphragmatic defect were reviewed to determine the frequency and nature of underlying chromosomal, genetic, and nongenetic patterns of malformation. Overall, 40 children (39%) had a major nonpulmonary malformation, and 14 of these children (14%) had a previously recognized pattern of malformation. A group of 18 children (18%) with cardiac anomalles had an increased mortality rate in comparison with those children without cardiac defects (72% vs 38%). The frequency and severity of nonpulmonary abnormalitles in children with congenital diaphragmatic defects suggest that examination of affected children should include cardiac evaluation, a karyotype when the defect is one feature of a broader pattern of altered development, and a careful evaluation for minor anomalies, which may provide clues to an overall diagnosis.
AB - The medical records of 102 live-born children with a congenital diaphragmatic defect were reviewed to determine the frequency and nature of underlying chromosomal, genetic, and nongenetic patterns of malformation. Overall, 40 children (39%) had a major nonpulmonary malformation, and 14 of these children (14%) had a previously recognized pattern of malformation. A group of 18 children (18%) with cardiac anomalles had an increased mortality rate in comparison with those children without cardiac defects (72% vs 38%). The frequency and severity of nonpulmonary abnormalitles in children with congenital diaphragmatic defects suggest that examination of affected children should include cardiac evaluation, a karyotype when the defect is one feature of a broader pattern of altered development, and a careful evaluation for minor anomalies, which may provide clues to an overall diagnosis.
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U2 - 10.1016/S0022-3476(05)82884-7
DO - 10.1016/S0022-3476(05)82884-7
M3 - Article
C2 - 2299497
AN - SCOPUS:0025020955
VL - 116
SP - 258
EP - 261
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 2
ER -