| Title | Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion. | | Author(s) | Akçakuş M, Güneş T, Kurtoğlu S, Cetin N, Ozkul Y, Narin N, Atabek ME, Uğraş R | | Institution | Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey. | | Source | Turk J Pediatr 2004 Apr-Jun; 46(2):191-3. | | MeSH | Chromosome Deletion
Chromosomes, Human, Pair 22
Crying
Facial Asymmetry
Facies
Humans
Hypocalcemia
Hypoparathyroidism
Infant, Newborn
Male
Tetralogy of Fallot
| | Abstract | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 15214756 |
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