Table II.
Initial Diagnoses of Infants with Associated Clefts, according to Clinical and Cytogenetic Evidence, and Distribution of Cleft Types.
| DIAGNOSTIC GROUPS |
DIAGNOSES | CLIN (CYTO) |
CLP | CLO | CP | |
|---|---|---|---|---|---|---|
| Chromosome anomaly syndromes (Total: 38) |
Trisomy 13 | 13(10) | 10 | 3 | ||
| Trisomy 18 | 11(6) | 8 | 1 | 2 | ||
| Down | 3(3) | 3 | ||||
| Del 4p16 | 2(2) | 2 | ||||
| Other* | 9(8) | 3 | 1 | 5 | ||
| Syndromes without chromosome anomalies (Total: 33) |
Syndromes with arthrogryposis |
Fetal akinesia (unspecified) |
6 | 2 | 4 | |
| Moebius | 5 | 1 | 4 | |||
| Marden-Walker | 1 | 1 | ||||
| Congenital contractural arachnodactyly |
1 | 1 | ||||
| Meckel | 3 | 1 | 2 | |||
| Treacher Collins-Franceschetti | 3 | 3 | ||||
| Apert | 2 | 2 | ||||
| Orofaciodigital type I | 2 | 2 | ||||
| Other** | 10 | 3 | 7 | |||
| Malformation complexes/ sequences (Total: 16) |
Branchial arch | 7 | 4 | 3 | ||
| Anencephaly | 5 | 2 | 3 | |||
| Amniotic bands sequence | 3 | 2 | 1 | |||
| Holoprosencephaly | 1 | 1 | ||||
| MCA | 98 | 51 | 6 | 41 | ||
| TOTAL | 185 | 93 | 9 | 83 | ||
CLIN: clinical
CYTO: cytogenetic
CLP: cleft lip and palate
CLO: cleft lip only
CP: cleft palate
MCA: multiple congenital anomalies of unknown cause
*
46,XX,del(7); 46,XX,del(1); 46,XX,der(13)t(1;22;13); 46,XY,der(13)t(13;16); 46,XY,3q+; 47,XY+mar/46,XY; 46,XX,add(9p); 46,XYq-; mosaic tetrasomy 12p (suspected).
**
CHARGE, Larsen, Opitz GBBB, van der Woude, Cerebrooculonasal, Stickler, Mohr, Postaxial acrofacial dysostosis, Disorganization (Ds), Skeletal dysplasia (unspecified).