No abstract available.
DiGeorge Syndrome*

Primary hypoparathyroidism is caused by a group of heterogeneous conditions in which hypocalcemia and hyperphosphatemia occur as a result of deficient parathyroid hormone (PTH) secretion. The most common cause is surgical excision and damage to the parathyroid gland(s). Nonetheless, autoimmune endocrine disorder of primary hypothyroidism has been well-described in polyglandular autoimmune syndromes (PAS).1 Its association with pituitary lesion may be autoimmune lymphocytic hypophysitis as the cause for pituitary disorder. In this report, we encountered a patient with primary hypoparathyroidism who had a non-functioning pituitary tumour. It was confirmed as pituitary adenoma rather than lymphocytic hypophysitis from the histopathological examination. To our knowledge, this is the first reported case of non-functioning pituitary macroadenoma and primary hypoparathyroidism.
Hypopituitarism ; Autoimmune Hypophysitis ; DiGeorge Syndrome

DiGeorge Syndrome ; genetics ; Humans ; Phenotype ; Twins, Monozygotic

DiGeorge syndrome is associated with a chromosome 22q11.2 deletion and manifests with variable clinical findings. Aspiration pneumonia can be a perioperative complication of great concern in this syndrome. In this report, we present a case of a 16-month old child with DiGeorge syndrome undergoing cranioplasty. He developed perioperative aspiration pneumonia but was managed successfully.
Child ; DiGeorge Syndrome ; Humans ; Pneumonia, Aspiration

DiGeorge Syndrome ; diagnosis ; therapy ; Humans ; Infant, Newborn ; Male

Symptomatic bilateral striopallidodentate calcinosis is required to identify the underlying causes. Disorder of calcium metabolism, such as hypoparathyroidism is the most common cause. We report a patient with hypoparathyroidism induced intracranial calcification who presented seizure and psychotic symptoms in adult and finally diagnosed as a choromosome 22q11.2 deletion syndrome.
Adult ; Calcinosis ; Calcium ; DiGeorge Syndrome ; Humans ; Hypoparathyroidism ; Seizures

Humans ; DiGeorge Syndrome/diagnostic imaging* ; Tetralogy of Fallot/surgery* ; Ultrasonography

CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.
CHARGE Syndrome* ; Consensus ; DiGeorge Syndrome ; Ear ; Growth and Development ; Heart ; Humans ; Hypocalcemia* ; Korea ; Nasopharynx ; Phenotype

PURPOSE: Deletion of chromosome 22q11 is associated with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. This study was performed to determine the criteria of clinical phenotype as recognizable syndrome and to research the loss of heterozygosity in CATCH 22 patients and their family. METHODS: An evaluation of the clinical and genetic profiles of 30 persons of CATCH 22 syndrome or their family referred with a diagnosis of either congenital heart disease or cleft palate was undertaken. The deletions of 22q11 were analyzed using the fluorescences in situ hybridization(N25, Oncor) and short tandem-repeat polymorphic makers(STRP, D22S941). RESULTS: The dysmorphic features of CATCH 22 showed considerable overlap and intrafamilial difference was common. The familial cases of CATCH 22 were transmitted maternally as autosomal dominant. The target gene study using the STRP maker(D22S941) in these series showed good clinico-genetic correlation but some heterogeneity. CONCLUSION: Although 22q11 deletion was large in size and high variable in polymorphic markers, extensive evaluation clinically as well as genetically will be necessary for subgrouping of CATCH 22 syndrome due to good clinicogenetic correlation. Furthermore, we also suggest the development of new polymorphic markers to research the unknown characteristics of polymorphic markers in Korean patients with CATCH 22 syndrome.
Cleft Palate ; Diagnosis ; DiGeorge Syndrome ; Heart Defects, Congenital ; Humans ; Loss of Heterozygosity ; Phenotype ; Population Characteristics

BACKGROUND: An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance. METHODS: In this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years) with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles. RESULTS: One patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%) had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on both vowels and consonants. The mean cranial base angle was 136.5degrees (standard deviation, 5.3degrees; range, 122.3-144.8degrees). The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasal resonance had a significantly more obtuse mean cranial base angle (138degrees vs. 134degrees, P=0.049) but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412). CONCLUSIONS: In this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.
Child ; DiGeorge Syndrome* ; Humans ; Platybasia* ; Prevalence ; Retrospective Studies ; Skull Base ; Tertiary Care Centers ; Velopharyngeal Insufficiency