Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion


Akçakuş M. , Güneş T. , Kurtoglu S. , Çetin N. , Özkul Y. , Narin N. , et al.

TURKISH JOURNAL OF PEDIATRICS, cilt.46, ss.191-193, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 46 Konu: 2
  • Basım Tarihi: 2004
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayısı: ss.191-193

Özet

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 22qll. The deletion within chromosme region of 22qll may occur in patients with dysmorphologic and cardiological syndromes: DiGeorge syndrome, velo-cardio-facial 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 22qll deletion was made.