Cornelia de Lange Syndrome: A Case Report of a Brazilian Boy

Abstract

Cornelia de Lange syndrome is a rare multisystem disorder characterized by a distinctive facial appearance, delayed growth and psychomotor skills, behavioral problems, malformation of the upper limbs, and impairment on the quality of life of affected subjects. This article reports a case of a child with the syndrome, emphasizing the orofacial manifestations. Knowledge on the etiopathological aspects and characteristic features of this condition is essential so that professionals can provide health care and help improve the quality of life of affected individuals and their families.

Cornelia de lange manifestations in otolaryngology: A systematic review and meta‐analysis

“…In the case reports, craniofacial anomalies (23 cases) were the most prevalent manifestations and were similar to those reported in the case series …”

“…5 The most important new findings by reviewing case reports were the airway disorders that were mentioned in 11 patients. [2][3][4][5]37,57,[60][61][62][63][64] Airway manifestations included hypoxia and cardiac arrest (n = 1), difficult mask ventilation (n = 1), difficult airway visualization with intubation: grade 3 or 4 exposure view (n = 4), postoperative respiratory distress (n = 1), upper airway obstruction with tracheostomy (n = 1), laryngeal anomalies not otherwise specified (n = 1), reactive airway disease (n = 1), and facial contact dermatitis (n = 1).…”

“…12 Similarly, oral cavity and dental disorders were also frequently reported in 17 out of the 34 case reports (Table III). 19,24,39,43,45,55,57,60,61,65,72 Manifestations included nonerupted anchylosed teeth (n = 1), teeth in ectopic position (n = 3), delayed eruption (n = 5), cleft palate (n = 5), thin and downturned lips (n = 8), anodontia (n = 3), widely spaced teeth/incisors (n = 1), periodontal illness (n = 1), persistence of temporal teeth (n = 1), wide open-bite (n = 2), high arched palate (n = 4), class II or III malocclusion (n = 2), macrodontic deciduous teeth (n = 1), hypomineralized areas on the vestibular surfaces of deciduous cusps and molars (n = 1), protruded maxillary anterior teeth (n = 1), velopharyngeal insufficiency with no cleft (n = 1), occlusal attrition (n = 1), and microdontia (n = 1).…”

“…2,4,7,11,[22][23][24][25][26][27] In the case reports, craniofacial anomalies (23 cases) were the most prevalent manifestations and were similar to those reported in the case series. 24,[35][36][37][38][39][43][44][45][55][56][57]60,61,63,[65][66][67][68][69][70][73][74][75][76] Findings included synorphys (n = 15); long, thick eyelashes (n = 12); anteverted nares (n = 12); crescentshaped lip (n = 13); and a long philtrum (n = 11). One new finding reported was the presence of an antimongoloid slant in two patients.…”

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

“…(R14, R15), which may lead to early-onset dental decay and periodontal disease 59 . Dental treatment by an interdisciplinary health-care team, a healthy diet, topical fluoride application and periodic dental check-ups are crucial in optimal management 60,61 .…”