Rubinstein-Taybi Syndrome; a case report

Rubinstein-Taybi Syndrome is a rare genetic disorder with characteristic features including downward slanting palpebral fissures, broad thumbs and halluces, and mental retardation. Systemic features may involve cardiac, auditory, ophthalmic, endocrine, nervous, renal and respiratory systems. This syndromeis sporadic in nature and has been linked to microdeletion at 16p 13.3 encoding CREB-binding protein gene [CREBBP]. We report a 15-years-old girl, a known case of chronic renal failure, with downward slanting palpebral fissures towardthe ears, hypertelorism, short stature, beaked nose, micrognathia, strabismus, dental anomalies, large toes, broad thumbs, and mental retardation

case report of a 2.5-year-old girl with angelman syndrome [AS]

Angelman Syndrome [AS] is a genetically determined syndrome that has a unique behavioral phenotype. This syndrome is described as jerky ataxia and an unusual happy facial expression with pathological laughter. Severe mental retardation is a unique feature of the syndrome, together with microbrachycephaly and abnormal electroencephalographic findings with or without clinical seizures. The patients cannot speak or at most, they have a vocabulary consisting only of a few words. The genetic abnormality of AS has been located on chromosome 15q11-q13. Patients with As mostly have deletions on the maternally derived allele [75-80%] while some of them show paternal uniparental disomy [approximetly sign 2%] or a rare imprinting mutation developmental disorder caused by deletion of the maternally-inherited chromosome 15q11-13. A 2.5-year-old girl is presented. Clinical suspicion of AS was raised at the age of 27 months when she presented with mental retardation and epilepsy, absence of speech, inability to gait and paroxysmal episodes of laughter. Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and a prominent mandible. Chromosomal analysis revealed 46 xx with the deletion of 15q chromosome [15q11q13-snrpn/ic] Our patient met the classical phenotype and genotype of AS