Lobster Claw Hand Deformity - Cornelia de Lange Syndrome
Sahana Devadas
Department of Paediatrics, Bangalore Medical College and Research Institute (BMCRI), Fort, K.R.Road, Bengaluru-560002, Karnataka, India.
Meghana Jagadish
Department of Paediatrics, Bangalore Medical College and Research Institute (BMCRI), Fort, K.R.Road, Bengaluru-560002, Karnataka, India.
Pavan Kumar Karigoudar
Department of Paediatrics, Bangalore Medical College and Research Institute (BMCRI), Fort, K.R.Road, Bengaluru-560002, Karnataka, India.
H. Anil Kumar
Department of Paediatrics, Bangalore Medical College and Research Institute (BMCRI), Fort, K.R.Road, Bengaluru-560002, Karnataka, India.
Varun Govindarajan *
Department of Paediatrics, Bangalore Medical College and Research Institute (BMCRI), Fort, K.R.Road, Bengaluru-560002, Karnataka, India.
Mallesh Kariyappa
Department of Paediatrics, Bangalore Medical College and Research Institute (BMCRI), Fort, K.R.Road, Bengaluru-560002, Karnataka, India.
*Author to whom correspondence should be addressed.
Abstract
Background: Cornelia de Lange syndrome is a genetic syndrome characterized by intellectual disability, facial features with synorphrys or fused eyebrows, upper limb anomalies and atypical growth. It is caused by spontaneous mutations in genes responsible for structural or regulatory function of cohesin complex.
Report: We present two newborns cases admitted to our NICU with characteristic dysmorphic features of microcephaly, ectrodactyly and thick eyebrows. One baby also had associated congenital heart defect and sensorineural hearing loss. Both babies are under followup with developmental early intervention programs. Parents were offered genetic counselling for future pregnancies.
Conclusion: Cornelia de Lange is predominantly a clinical diagnosis by identifying typical dysmorphic features. Labelling a syndromic diagnosis helps to provide genetic counselling to the parents, identify associated co-morbidities at earlier stages and improve the quality of living of such children.
Keywords: Cornelia de lange syndrome, synorphrys, dysmorphism, ectrodactyly