Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)

Digilio, María Cristina; Marino, Bruno; Cappa, Marco; Cambiaso, Paola; Giannotti, Aldo; Dallapiccola, Bruno

doi:10.1097/00125817-200101000-00007

Cited by 40 publications

(43 citation statements)

References 12 publications

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“…Less than one third of the patients were diagnosed as having VCFS while the majority had typical DGS. Congenital heart defects are one of the main manifestations of 22q11DS, found in 75–86% of the patients [16, 21]. In our cohort the prevalence was 67%, which is comparable to that reported for the general 22q11DS population.…”

Section: Discussionsupporting

confidence: 80%

Parathyroid Gland Dysfunction in 22q11.2 Deletion Syndrome

et al. 2006

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Background: 22q11 deletion syndrome (22q11DS) is characterized by conotruncal cardiac defects and hypoplasia of parathyroid glands and thymus, which result in variable hypoparathyroidism (HPT) and immune deficiency. Methods: To study the course of HPT and the spectrum of other associated manifestations we evaluated all patients with 22q11DS, confirmed by fluorescence in situ hybridization, and HPT who were under follow-up at the Calcium-bone clinic, The Hospital for Sick Children, Toronto. Patients were clinically assessed and their hospital records were reviewed. Results: Eighteen patients were included. At follow-up assessment at median age of 7.3 years HPT was judged complete in 11 (61%) and partial in 7 patients (39%). Patients with complete HPT presented with hypocalcemia later (median age at diagnosis 2.4 vs. 0.0 years) and more often with a hypocalcemic seizure than patients with partial HPT (73 vs. 29%). The spectrum of other associated manifestations did not differ between the groups. Conclusions: HPT in patients with 22q11DS is often partial. Many of the patients present with a hypocalcemic seizure which is predictive of complete HPT. Patients with complete and partial HPT do not differ in respect to their other associated features. Patients with features of 22q11DS should be actively screened for hypocalcemia to prevent development of symptomatic hypocalcemia.

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Section: Discussionsupporting

confidence: 80%

Parathyroid Gland Dysfunction in 22q11.2 Deletion Syndrome

et al. 2006

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“…This prevalence of obesity was higher when compared to healthy adult Canadians (23.1% obesity; 2004 Canadian Community Health Survey) [18]. However it is noteworthy that, in this series, 58% of the patients had psychiatric disorders and that in the study reported by Digilio et al [11] only overweight patients displayed mental retardation. The association between psychosocial problems, functional limitations, or disabilities, and excess weight have been previously clearly associated, regardless of 22q11.2 DS [19,20].…”

Section: Discussionmentioning

confidence: 56%

“…Auxological characteristics have been reported mostly as short stature, but neonatal data including length or the BMI childhood clinical course have not been described [1,9]. In a cohort of 16 adolescents, Digilio et al [11] reported overweight in 2 (12.5%). More recently, Bassett et al [7] noted that 34.6% of the patients had a BMI >30 in a group of 78 Canadian adults with 22q11.2 DS.…”

Section: Discussionmentioning

confidence: 99%

“…After a diagnosis of 22q11.2 deletion in a newborn or in a child, recommendations are given concerning prevention of hypocalcemia, immune deficiencies, and possible neuropsychiatric problems. Few data are available on the growth pattern in 22q11.2 DS: two distinct studies have reported a high prevalence of obesity in adolescents and adults while no specific recommendations about BMI follow-up have been proposed [7,11]. The reference center for developmental anomalies in southern France (Hôpital de la Timone Enfants, Marseille, Hôpital de l’Archet, Nice) cares for 22q11.2 patients diagnosed from birth to adulthood.…”

Section: Introductionmentioning

confidence: 99%

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Auxological Evaluation in Patients with a 22q11.2 Microdeletion Syndrome: Normal Prevalence of Obesity and Neonatal Length and Gender Influence on Body Mass Index Evolution

Reynaud

Derain-Court²,

Braunstein³

et al. 2011

Horm Res Paediatr

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Aims: To evaluate auxological parameters in children and adults with a 22q11.2 microdeletion syndrome (22q11.2 DS) and to compare prevalence of obesity to that in the French general population. Methods: 102 patients with 22q11.2 DS (49 males, 53 females) were recruited from birth to adulthood through a reference center in southern France. Results: Mean BMI Z score and mean height were normal (0.07 ± 1.49 SD, –0.87 ± 1.36 SDS, respectively). 16.1% of patients were overweight (including obese), 57% out of them being born small for gestational age for length versus 25% of non-overweight patients. During infancy, BMI increased in girls (+0.89 SD Z score). Childhood: 14.7% were overweight, prevalence similar to that of the in French children population. Adulthood: 19.2% were overweight. BMI Z scores were inversely correlated with neonatal length (p = 0.026) and female sex (p = 0.032) but positively associated with neonatal weight (p = 0.036). From analysis of neonatal data, 22q11.2 DS newborns were significantly shorter with regard to their weight (p < 0.01), even though mean neonatal measures were above –2 SDS. Conclusions: Our study did not find a higher prevalence of overweight in 22q11.2 DS to that in the French population. The BMI Z score was inversely correlated with neonatal length and female gender but positively associated with neonatal weight.

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“…The IGF-1 level can be reduced by poor nutrition, severe hepatic disease, poorly controlled diabetes mellitus, and inadequately treated hypothyroidism [25]. There is a tendency to develop obesity in adolescents with 22q11.2 microdeletion syndrome [26]. In this study, no patients are overweight at current age, although further follow-up is required.…”

Section: Discussionmentioning

confidence: 94%

Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome

et al. 2005

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Background: Endocrine abnormalities, including hypocalcemia, thyroid dysfunction, and short stature, are associated with chromosome 22q11.2 microdeletion syndrome. This study was undertaken to examine the frequencies and clinical features of endocrine abnormalities in patients with 22q11.2 microdeletion syndrome. Methods: We analyzed 61 patients with 22q11.2 microdeletion syndrome diagnosed based on the verification of microdeletion by fluorescent in situ hybridization (FISH) using a probe of the DiGeorge syndrome critical region (TUPLE1) at 22q11.2 and a control probe, ARSA at 22q13. Serum total calcium, phosphorus, and intact parathyroid hormone (PTH) levels were measured, thyroid function test was performed, and serum IGF-1 and IGFBP-3 levels were also estimated. Height and weight of patients were compared with individual chronological ages. Results: Hypocalcemia was found in 20 patients (32.8%), and overt hypoparathyroidism in 8 (13.1%). Two patients (3.3%) showed autoimmune thyroid diseases, 1 each with Graves’ disease and Hashimoto thyroiditis. Ten patients (16.4%) were below the third percentile in height, but the serum IGF-1 level was normal in 9 out of these 10 patients. Conclusion: Our findings show that patients with chromosome 22q11.2 microdeletion syndrome present with variable endocrine manifestations and variable clinical phenotypes. In addition to FISH analysis, careful endocrine evaluations are required in patients with this microdeletion syndrome, particularly for those with hypoparathyroidism or thyroid dysfunction.

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Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)

Cited by 40 publications

References 12 publications

Parathyroid Gland Dysfunction in 22q11.2 Deletion Syndrome

Parathyroid Gland Dysfunction in 22q11.2 Deletion Syndrome

Auxological Evaluation in Patients with a 22q11.2 Microdeletion Syndrome: Normal Prevalence of Obesity and Neonatal Length and Gender Influence on Body Mass Index Evolution

Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome

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