(1996) searched for a 22q11 microdeletion in familial cases of nonsyndromic CTD. No deletion of 22q11.2 was found in 60 patients who had congenital heart disease without CAFS.Ĭonotruncal defects (CTD) account for a fourth to a third of all nonsyndromic congenital heart defects. Monosomy for the region 22q11.2 was found in 42 CAFS patients and in 4 mothers and 1 father who had CAFS without congenital heart disease. (1994) performed FISH analysis using the D22S75 DiGeorge critical region probe (DCGR) in 50 CAFS patients, 11 parent couples, and 10 mothers of CAFS patients. These results were confirmed by fluorescence in situ hybridization (FISH). (1992) found loss of heterozygosity indicating microdeletions of chromosome 22q11.2 in 30% of isolated conotruncal anomalies. Some patients also have hypocalcemia, especially in the neonatal period (sometimes associated with hypoparathyroidism), and thymic aplasia or hypoplasia ( Matsuoka et al., 1998).Ĭonotruncal heart malformations may be components of certain syndromes, e.g., DiGeorge syndrome ( 188400), the velocardiofacial syndrome ( 192430), and genitopalatocardiac syndrome ( 231060). The cardiovascular anomalies in patients with the conotruncal anomaly face syndrome mainly consist of cardiac outflow tract defects, such as tetralogy of Fallot (TOF 187500), pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies. These features are almost always associated with nasal voice (often associated with cleft palate/submucosal cleft palate/bifid uvula) and mild mental retardation (frequently associated with developmental retardation and, occasionally, dwarfism), and often associated with cardiovascular anomalies. Typical facial features of conotruncal anomaly face syndrome (CAFS) are ocular hypertelorism (with increased interpupillary distance due to increased separation of the inner canthi), short palpebral fissures, 'bloated' eyelids, a low nasal bridge, a small mouth, and minor ear lobe anomalies. (1989) had raised the question of autosomal recessive inheritance of truncus arteriosus. Rein and Sheffer (1994) reported 2 additional sibs with conotruncal malformations born into the consanguineous kindred they had previously reported. (1990) described a large kindred in which 2 sibs had truncus arteriosus communis, a first cousin once removed had transposition of the great arteries (TGA see 608808), and a second cousin had double-outlet right ventricle. (1988) found that conotruncal malformations carry a higher recurrence risk than other cardiac defects and proposed a monogenic mode of inheritance. In a study of the families of children with cardiac malformations, Pierpont et al.
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