title: Cayler Cardio-Facial Syndrome: An Uncommon Condition in Newborns.
abstract: BACKGROUND
  Cayler cardio-facial syndrome is a rare syndrome associated with asymmetric crying faces with congenital heart disease. We report a newborn that was diagnosed as case of Cayler Cardio-facial syndrome based on clinical features and was confirmed with FISH analysis.
  
  
  METHODS
  A term male baby, born to non-consanguineous couple through normal vaginal delivery was diagnosed to have asymmetric crying faces with deviation of angle of mouth to left side at the time of birth. The baby had normal faces while sleeping or silent. Mother was known case of hypothyroidism and was on treatment. Baby was diagnosed as case of Cayler Cardio-facial Syndrome and was investigated with echocardiogram, brain ultrasound, total body X-ray examination, X-ray of cervico-thoracic vertebral column and fundus examination. Echocardiogram showed muscular VSD, brain ultrasound was normal and fundus examination showed tortuous retinal vessels. Whole body X-ray and lateral X-ray of cervico-thoracic vertebral column were not suggestive of any skeletal abnormalities. The other associated malformation was right ear microtia. Baby FISH karyotype analysis showed deletion of 22q11.2 deletion. Baby was discharged and now on follow-up.
  
  
  CONCLUSIONS
  Cayler syndrome is a rare syndrome which must be suspected if a baby has asymmetrical cry pattern and normal facies when baby sleeps. Patient must be evaluated with echocardiography to find out associated cardiac malformations. These infants should undergo FISH analysis for 22q11.2 deletion syndrome.
authors.affiliation: Department of Paediatrics, Durgabai Deshmukh Research Center and Hospital, Hyderabad, Andhra Pradesh, India.
authors.forename: Sunil Jayaram
authors.initials: SJ
authors.lastname: Pawar
authors.affiliation: Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, India.
authors.forename: Deepak Kumar
authors.initials: DK
authors.lastname: Sharma
authors.affiliation: Department of Paediatrics, Durgabai Deshmukh Research Center and Hospital, Hyderabad, Andhra Pradesh, India.
authors.forename: Sela
authors.initials: S
authors.lastname: Srilakshmi
authors.affiliation: Department of Paediatrics, Durgabai Deshmukh Research Center and Hospital, Hyderabad, Andhra Pradesh, India.
authors.forename: Suguna
authors.initials: S
authors.lastname: Reddy Chejeti
authors.affiliation: Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, India.
authors.forename: Aakash
authors.initials: A
authors.lastname: Pandita
keywords: Cayler Cardiofacial Syndrome; Congenital Heart Defect