Craniofacial Morphology of Conotruncal Anomaly Face Syndrome

Kitano, Ichiko; Park, Susam; Kato, Kogo; Nitta, Naotsugu; Takato, Tsuyoshi; Susami, Takafumi

doi:10.1597/1545-1569(1997)034<0425:cmocaf>2.3.co;2

Cited by 10 publications

(7 citation statements)

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“…Alternatively, there could be an effect of genetic background. Differences in facial phenotype have been described in African-American patients (17) and in Thailand (18) and Japan (19). Sequence variation of genes in the non-deleted chromosome or elsewhere in the genome could act as modifiers.…”

Section: Discussionmentioning

confidence: 99%

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

et al. 2009

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Patients with chromosome 22q11 deletion syndrome exhibit significant phenotypic variability. Epidemiologic data suggest a higher incidence in Hispanics, but limited clinical information is available from Latin-American patients. We describe the clinical features of Chilean patients with 22q11 deletion syndrome and compare their findings with those reported in large European, Japanese and US series. Data were obtained from 208 patients from five medical centers. Mean age at diagnosis was 5.2 years, with a median of 2.3 years. Congenital heart defects were present in 59.6%, lower than other large series that averaged 75.8%. Palate abnormalities were present in 79%, higher than previous reports averaging 56%. Patients with congenital heart disease were diagnosed earlier (median 0.3 years of age) than those without heart defects (median 5.6 years) and had greater mortality attributable to the syndrome (9.8% vs 2.4%, respectively). The differences in frequencies of major anomalies may be due to growing awareness of more subtle manifestations of the syndrome, differences in clinical ascertainment or the presence of modifier factors. These observations provide additional data useful for patient counseling and for the proposal of health care guidelines.

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Section: Discussionmentioning

confidence: 99%

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

et al. 2009

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“…The most recurrent symptoms shown by our patients were indeed typical facies and learning disabilities. Some facial anomalies, such as bulbous nasal tip, may become more apparent with age (25).…”

Section: Discussionmentioning

confidence: 99%

The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11

Hiéronimus¹,

Bec-Roche²,

Pédeutour

et al. 2006

eur j endocrinol

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Objective: Clinical features associated with microdeletion of chromosome 22q11 (del(22)(q11)) are highly variable. Increased awareness of this condition is needed among specialists such as endocrinologists to reduce diagnostic delay and improve clinical care. The purpose of this study was to describe the phenotype of patients with del(22)(q11), focusing on parathyroid gland dysfunction. Design and methods: Charts of 19 patients, including one kindred of three, known to have del (22)(q11) diagnosed by fluorescence in situ hybridization (FISH) were reviewed from the register of the department of Medical Genetics. Major clinical features including hypoparathyroidism phenotype were collected. Results: Parathyroid dysfunction was present in 8 out of 16 patients (50%). Six patients were diagnosed with overt hypoparathyroidism. Hypocalcemia manifested as laryngeal stridor within the first days of life (nZ3), seizures in infancy (nZ1) and adolescence (nZ2). The connection between hypoparathyroidism and diagnosis of del(22)(q11) was belated at the median age of 18 years. One patient had presented with transient neonatal hypoparathyroidism, and one patient had latent hypoparathyroidism. Within the kindred family, the phenotype variability including that of parathyroid dysfunction was as marked as between unrelated individuals. Standard karyotype failed to detect the deletion in 15 out of 19 cases. Conclusions: Abnormal parathyroid function in the del(22)(q11) ranges from severe neonatal hypocalcemia to latent hypoparathyroidism. Del(22)(q11) should be considered as a potential cause of hypocalcemia even in young adult. When suspected, the diagnosis requires investigation by FISH. Furthermore, long-term calcemia follow-up is needed in normocalcemic patients with del(22)(q11) because of the possible evolution to hypocalcemic hypoparathyroidism.European Journal of Endocrinology 155 47-52

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“…There have been few objective reports on 22q11 facial features. Kitano et al [1997] recently reported a study of 40 patients with the conotruncal anomaly face (CTAF) syndrome. A photogrammetric analysis was performed in 36 Japanese patients with five measurements converted in three indexes.…”

Section: Discussionmentioning

confidence: 99%

Craniofacial anthropometric analysis in patients with 22q11 microdeletion

et al. 2001

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Microdeletions in the 22q11 region are associated with a wide range of overlapping phenotypes. The main manifestations of the syndrome include palatal anomalies such as cleft palate or velopharyngeal insufficiency, conotruncal heart defects, hypocalcemia, immune disorders, and minor facial anomalies. Because of the wide variability, facial changes appear to be the most constant manifestation of the syndrome and characteristic for informed physicians. The purpose of this study is to report the preliminary results of a detailed analysis of anthropometric data (35 measurements) in 15 patients (7 females and 8 males between 5 and 38 years of age, all white Europeans) with a 22q11 microdeletion. Objective anthropometric study showed that 19 measurements and 7 indexes were significantly different between 22q11 patients and normative database. The typical face showed a short forehead with an anterior vertical excess. Downslanting eyes and large binocular width were the most common anomalies in the orbital area. The nose showed anomalies with a large root, a short tip, and a narrow alar base. There was a narrowing of the mouth and thin lips. Ears were small and slightly disharmonic for the children. Statistical comparison between children (10 cases) and adults (5 cases) showed that craniofacial assessment was more demonstrative in children than in adults.

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Craniofacial Morphology of Conotruncal Anomaly Face Syndrome

Abstract: Considering these findings, use of CATCH 22, the inclusive classification of cardiac anomalies, cleft palate, and dysmorphic face may be of value for the clinical understanding in these patients.

Cited by 10 publications

References 0 publications

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11

Craniofacial anthropometric analysis in patients with 22q11 microdeletion

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