A Rare Case of Cornelia De Lange Syndrome

Abstract

An 8-year-old female child was referred to our Cleft and Craniofacial centre, Department of Plastic & Reconstructive Surgery, Saveetha Medical College & Hospital, after being diagnosed with cleft palate and hyper nasal speech. She is the first child born from a non- consanguineous marriage with a birth weight of 2.6 kg. Following her, a girl and a boy were born and exhibited no apparent abnormalities. Both parents maintain a normal status, and there is no history of deformities in their family lineage. The patient underwent a typical vaginal delivery and was born at full term. At the time of birth, the child was differentially diagnosed with a neurogenic tumour in the occipital region of the skull. The child was not treated for the growth in the occiput. Patient had growth retardation, global developmental delays and features of facial dysmorphism like microcephaly, bushy and uni eyebrow, long eyelashes, low set ears, small nose, concave nasal bridge, and hirsutism.  The child was subjected to an MRI brain scan in our unit and it suggested a hyperechoic lesion in the midline at C3, C4 level with an impression of Arnold Chiari malformation. Clinically, on palpation of the lesion, it approximately measured 4x3 cm, soft in consistency and the lesion hardened while coughing or sneezing and regressed back to normalcy within a few minutes. USG abdomen was done and a well-defined hypoechoic dumbbell shaped bilobed solid lesion with smooth margins with no significant vascularity was noted in the gastrohepatic region. Echocardiogram was done and it ruled out cardiac anomalies like patent ductus arteriosus or coarctation of aorta. Inspection of the oral cavity was done to diagnose the cleft of the secondary palate. (Fig. 1) Based on all features in examination and investigation, a diagnosis of Cornelia de Lange syndrome was made. The surgery was planned after a routine blood workup. The child was advised for CECT of abdomen to confirm the USG findings of abdominal anomalies, however, the report suggested cystic lymphangioma. (Fig. 2) Fitness for palatoplasty surgery was obtained from paediatrician, paediatric surgeon, neurosurgeon, cardiologist and anaesthesiologist. Under antibiotic cover, the child was operated under general anaesthesia for palatoplasty by Sommerlad’s technique. (Fig. 3 & 4) The post-operative period was uneventful.