Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome).
OBJECTIVE
Patients with microdeletion of chromosome 22q11.2 (del22q11) were studied, in order to evaluate auxological parameters and to correlate growth patterns with the presence of main clinical characteristics of the syndrome.


METHODS
Between January 1995 and March 2000, auxological parameters (weight, height, head circumference, and bone age) of 73 patients with del22q11 were collected. Five subgroups of patients were distinguished: Group I (37 patients) included patients aged between 0.3 and 4 years, Group II (20 patients) included patients aged between 5 and 10 years, Group III (16 patients) included patients aged between 11 and 16.3 years. The presence or absence of some clinical features was correlated to growth patterns.


RESULTS
Weight: in Group I, 5 of 37 (13.5%) patients were below the 3rd percentile, 29 of 37 (78.3%) were below the mean percentile, none was overweight; in Group II, 13 of 20 (65%) patients were between the 10th and the 50th percentiles; in Group III, weight corresponded to the 97th percentile in 5 of 16 (31.2%) patients, and in 2/16 (12.5%) adolescents, the weight measurements were even above the 97th percentile. Height: short stature was detected in 7 of 73 (9.6%) of the total patients; the patients with short stature were all < 10 years old; the height was within the normal age in all adolescent patients. Head circumference: it was below the 3rd percentile in 7 of 73 (9.6%), between the 3rd and the 25th percentiles in 36 of 73 (49.3%) patients, between the 25th and the 75th percentiles in 20 of 73 (27.3%) patients, and between the 75th and the 97th percentiles in 10 of 73 (13.7%) patients. Bone age: mean +/- SD bone age was -0.25 +/- 0.78 years. Comparisons: the only statistically significant correlation was that between the presence of feeding difficulties and underweight.


CONCLUSIONS
Auxological parameters of children with del22q11 are characterized by: (1) weight deficiency in the first years of age, (2) weight normalization in the following years, (3) development of obesity in adolescence, (4) short stature in 10% of the patients, (5) normal height in adolescents, (6) slight delay in bone age in infancy, (7) microcephaly in 10% of the patients.
Digilio
M C
MC
Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.
Marino
B
B
Cappa
M
M
Cambiaso
P
P
Giannotti
A
A
Dallapiccola
B
B
D000293:Adolescent; D001827:Body Height; D001835:Body Weight; D001842:Bone and Bones / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D006257:Head / Q000473:pathology; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000235:genetics; D009765:Obesity / Q000235:genetics; D010641:Phenotype