Diagnostic groups | Diagnosis | CL | CP | CLP |
---|---|---|---|---|
Chromosome anomaly Syndromes (Tot. 40) | Trisomy 13 (Patau) | – | 5 | 11 |
Trisomy 18 (Edwards) | 2 | 1 | 1 | |
Trisomy 21 | 1 | – | 2 | |
Deletion 22q (DiGeorge) | – | – | 1 | |
Deletion 4p16 | 1 | – | – | |
47xxy | – | 1 | 2 | |
46xxr | – | 1 | – | |
Other subtelomeric rearrangments | – | – | 4 | |
Syndromes without chromosome anomalies (Tot. 68) | Syndrome with arthrogryposis | – | 2 + 1 | 1 |
Moebius, Beals | ||||
Meckel-Gruber | – | – | 1 | |
Van der Woude | – | 2 | – | |
Binder | 1 | – | – | |
Holoprosencephaly | 1 | 3 | 10 | |
Fraser | 1– | – | – | |
Goldenhar | 2 | 2 | 3 | |
Kabuki | – | – | – | |
Treacher-Collins | 3 | – | ||
Syndrome Sequence with genetic anomalies | Pierre Robin | – | 35 | – |
Malformation/complex (Tot. 112) | MCA | 16 | 39 | 53 |
MCA–related maternal diabetes | 3 | 1 | ||
Totals | 26 | 98 | 90 |