Pawar Sunil Jayaram, Sharma Deepak Kumar, Srilakshmi Sela, Reddy Chejeti Suguna, Pandita Aakash
Department of Paediatrics, Durgabai Deshmukh Research Center and Hospital, Hyderabad, Andhra Pradesh, India.
Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, India.
Iran J Pediatr. 2015 Apr;25(2):e502. doi: 10.5812/ijp.502. Epub 2015 Apr 18.
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.
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.
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.
凯勒心脏面部综合征是一种罕见的综合征，与先天性心脏病伴不对称哭泣面容有关。我们报告一例新生儿，根据临床特征诊断为凯勒心脏面部综合征，并经荧光原位杂交（FISH）分析确诊。
一名足月儿男婴，由非近亲夫妇经正常阴道分娩出生，出生时被诊断为不对称哭泣面容，口角向左偏斜。婴儿在睡眠或安静时面部正常。母亲已知患有甲状腺功能减退症，正在接受治疗。该婴儿被诊断为凯勒心脏面部综合征，并接受了超声心动图、脑部超声、全身X线检查、颈胸椎X线检查和眼底检查。超声心动图显示肌部室间隔缺损，脑部超声正常，眼底检查显示视网膜血管迂曲。全身X线和颈胸椎侧位X线检查未提示任何骨骼异常。其他相关畸形为右耳小耳畸形。婴儿的FISH核型分析显示22q11.2缺失。婴儿出院，目前正在随访中。
凯勒综合征是一种罕见的综合征，如果婴儿有不对称哭泣模式且睡眠时面容正常，必须怀疑该病。必须对患者进行超声心动图检查以发现相关的心脏畸形。这些婴儿应接受22q11.2缺失综合征的FISH分析。
