Cornelia De-Lange Syndrome: A Case Report

Abstract

Cornelia de-Lange syndrome is a congenital anomaly syndrome characterized by distinctive facial dysmorphism, primordial short stature, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small widely spaced teeth and microcephaly. IQ ranges from between 30 and 102 with an average of 53. Many individuals demonstrate autistic and self-destructive tendencies. It is an autosomal dominant disorder caused by specific gene mutations and occurrence is one in 30,000 to 50,000 children. This article describes a report of a classical case of the syndrome of a 10-year-old boy and emphasizes the oral and systemic findings. The role of the pediatric dentist, with his expertize in prevention, skills of behavior management and timely referral to medical speciality, is of paramount importance in the management of children with this syndrome.How to cite this article: Mehta DN, Bhatia R. Cornelia De-Lange Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(2):115-118.

Cornelia De Lange Syndrome in the International Classification of Functioning, Disability and Health Perspetive: A Case Report

“…9 In this case, a 53-month-old boy was referred by the pediatrician with global or adactyly features. 10 In another case report, a CdLS patient was diagnosed without limb malformation criteria. 11 Cheng et al found that CdLS patients had small hands with small 5th fingers12.…”

Syndromes of head and neck region associated with gingival findings

“…Autosomal dominant [22] -Cherubism -Mental deficiency Cornelia de Lange syndrome -Primordial growth deficiency -Facial dysmorphism -Distinct craniofacial features [23] Cross syndrome Autosomal Recessive -Hypopigmentation -Microphthalmia Gingival fibromatosis with Murray syndrome (Murray-Puretic-Drescher syndrome, juvenile hyaline fibromatosis) Mutations in capillary morphogenesis protein-2 (CMG-2 gene) Nodular, papular skin lesions Ambras syndrome -Extreme hypertrichosis involving the shoulders, face, nose, and ears [24] Rutherford syndrome -Delayed tooth eruption -Mental retardation -Aggressive behavior [25] Table 2: Syndromes associated with gingival bleeding Syndromes Genetics Shwachman-Diamond syndrome SBDS gene is located at chromosome 7q11 [26] Myelodysplastic syndrome (MDS) Hemorrhagic lupus anticoagulant syndrome Craniofacial arteriovenous metameric (CAMS) syndrome Epstein syndrome Mutations affecting the myosin heavy chain (MYH-9) gene [28] . Osler-Rendu-Weber Syndrome (Hereditary hemorrhagic telangiectasia) Asthenia-polyarthritis.…”

Cornelia – de – Lange Syndrome with Infantile Spasms – A Rare Case Report

“…Cornelia de-Lange syndrome (CdLS) was first described as a distinct syndrome in 1933, by Dr Cornelia de-Lange, a Dutch paediatrician, after whom the disorder has been named, though the first ever documented case was in1916 by Dr Brachmann. (1) It is a rare genetic disorder characterised by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. (2) Seizure is found about 20% of cases majority being partial seizure type (64.3 %).…”