CATCH 22 Syndrome.
CATCH 22 syndrome is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. It results from a deletion within chromosome 22q11. This syndrome is not a simple disease. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. The authors report two cases of CATCH 22 syndrome.
Yonehara
Yoshiyuki
Y
Department of Plastic and Reconstructive Surgery, Saitama Medical School, Saitama, Japan. yonehara@med.teikyo-u.ac.jp
Nakatsuka
Takashi
T
Ichioka
Shigeru
S
Sasaki
Nozomu
N
Kobayashi
Toshiki
T
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D003937:Diagnosis, Differential; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics; D007231:Infant, Newborn; D013577:Syndrome; D013950:Thymus Gland / Q000002:abnormalities