A case of Cornelia de Lange syndrome from Sudan

Here we present for the first time a case of BDLS from Sudan, a 7-month-old female infant, who was referred as a case of malnutrition. The patient was from a Sudanese western tribe. Clinical investigation showed that the child was a classical case of BDLS, but with some additional clinical findings not previously reported including crowded ribs and tied tongue.Reporting BDLS cases of different ethnic backgrounds could add nuances to the phenotypic description of the syndrome and be helpful in diagnosis.Brachmann de Lange Syndrome (BDLS) [1], also known as Cornelia de Lange syndrome [2] or Brachmann Cornelia de Lange syndrome is a dominantly inherited multi-system developmental disorder characterized by growth and cognitive retardation, abnormalities of the upper limbs, gastroesophageal dysfunction, ophthalmologic and genitourinary anomalies, hirsutism, characteristic facial features, pyloric stenosis, congenital diaphragmatic hernias, cardiac septal defects, and hearing loss. Autism and self-injurious tendencies also frequently occur. The prevalence of the syndrome is estimated to be as high as 1 in 10,000 [3]. Facial findings, including characteristic eyebrows (neat, well-defined, and arched), long philtrum, thin lips, and crescent-shaped mouth, are the most important diagnostic features of BDLS. This combination of facialanomalies is absent in postpubertal males but not in postpubertal females [4].Van Allen and colleagues in 1993, proposed a classification system for BDLS. Type I, or classic BDLS, patients have the characteristic facial and skeletal changes of the diagnostic criteria established by Preus and Rex in 1983 [5,6]. They have prenatal growth deficiency, moderate-to-profound psychomotor retardation, and major malformations, which result in severe disability or death. Type II, or mild BDLS, patients have similar facial and minor skeletal abnormalities to those seen in type I; however, these changes may develop with time or may be only partially expressed.