Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion.
Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia and a variable deletion on chromosome 22q11. The deletion within chromosme region of 22q11 may occur in patients with dysmorphologic and cardiological syndromes: DiGeorge syndrome, velo-cardiofacial syndrome and conotruncal anomaly face syndrome. We report a newborn infant who had asymmetric crying facies associated with congenital hypoparathyroidism, severe neonatal hypocalcemia and tetralogy of Fallot. Genetic confirmation of chromosome 22q11 deletion was made.
Akçakuş
Mustafa
M
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
Güneş
Tamer
T
Kurtoğlu
Selim
S
Cetin
Neşide
N
Ozkul
Yusuf
Y
Narin
Nazmi
N
Atabek
Mehmet Emre
ME
Uğraş
Remzi
R
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003448:Crying; D005146:Facial Asymmetry / Q000150:complications / Q000235:genetics*; D019066:Facies; D006801:Humans; D006996:Hypocalcemia / Q000150:complications; D007011:Hypoparathyroidism / Q000150:complications* / Q000151:congenital; D007231:Infant, Newborn; D008297:Male; D013771:Tetralogy of Fallot / Q000150:complications