Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 258-261 |
| Number of pages | 4 |
| Journal | The Journal of Pediatrics |
| Volume | 116 |
| Issue number | 2 |
| DOIs | |
| State | Published - 1990 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Patterns of malformation in children with congenital diaphragmatic defects. / Cunniff, Christopher M; Jones, Kenneth Lyons; Jones, Marilyn C.
In: The Journal of Pediatrics, Vol. 116, No. 2, 1990, p. 258-261.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Patterns of malformation in children with congenital diaphragmatic defects
AU - Cunniff, Christopher M
AU - Jones, Kenneth Lyons
AU - Jones, Marilyn C.
PY - 1990
Y1 - 1990
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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UR - http://www.scopus.com/inward/citedby.url?scp=0025020955&partnerID=8YFLogxK
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 -