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. Author manuscript; available in PMC: 2013 May 10.
Published in final edited form as: Am J Med Genet A. 2011 Jun 10;0(7):1588–1596. doi: 10.1002/ajmg.a.34046

Table IV.

Additional Anomalies, Ages at Detection, and Final Diagnoses in 38 Infants with Isolated Clefts Reassigned to the Associated Group.

Reason for
reassignment
Age at diagnosis
7 days (N=22) 28 days (N=10) 6 months(N=2) 12 months (N=3) NS(N=1)
Major
anomalies
(syndromes)
(N=5)
Chrom (CHD)(1) OPD (CHD)(3)
Fraser (NS)(1)
Moebius (hydrocephaly)(3)
Rubella (cataract)(3)
Major
anomalies
(MCAs)
(N=19)
Cystic kidney R(1)
Ectopic anus(1)
Hydronephrosis R(1)
Dandy Walker(1)
CHD+Microcephaly(1)
CHD (2 cases)(1,1)
CHD+kidney agenesis R(1)
CHD (2 cases)(1,1)
Brain anomaly(1)
Thyroid agenesis(1)
Cystic kidney R(1)
CHD(1)
Cystic
kidney R(1)
CHD(1)
Anal stenosis
(2 cases)(1,1)
Cataract(1)
Minor
anomalies
(syndromes)
(N=8)
Chrom (3 cases)(2,3,**)
Edward (2 cases)(1,1)
Klinefelter(3)
Rubinstein Taybi(3)
Cornelia de Lange(3)
Wrong
assignment at
birth
(N=6)
Chrom (3 cases)(1,2,3)
Hydrops fetalis(3)
Lethal skeletal dysplasia(3)
MCA(3)

Additionally detected major anomalies in syndromes between parentheses

MCA: multiple congenital anomalies of unknown cause

Chrom: other chromosomal abnormalities

CHD: congenital heart defect; OPD: otopalatodigital type I syndrome

NS: not specified; R: right

1

CLP

2

CLO

3

CP