Although there are numerous publications in the literature describing the wide range of diagnosis, classifications and treatment of malformations of the hearing apparatus, even more variations can be found in clinical practice. Indeed, each individual case is unique as far as concerns pathogenesis, clinical course and treatment. The case reported herein describes a 12-year-old boy affected by c...

Fetal warfarin syndrome (FWS) or warfarin (coumadin) embryopathy is a rare condition as a result of fetal exposure to maternal ingestion of warfarin during pregnancy. A male infant, whose mother was treated with the anticoagulant (warfarin) because of a mechanical heart valve replacement after rheumatic heart disease, presented with signs of warfarin embryopathy. The facial dysmorphism included...

Refsum disease (RD) is a rare autosomal recessive disorder characterized by an accumulation of phytanic acid . A variant of this disease that appears in children has been described and is called infantile Refsum disease (IRD). IRD is characterized by severe sensorineural deafness, retinitis pigmentosa, mental retardation, facial dysmorphism, hepatomegaly, and growth retardation . We report the ...

Introduction Turner syndrome characterized by total/partial and/or homogeneous/mosaic X chromosome monosomy is associated with various physical health concerns, including facial dysmorphism, short stature, infertility, and other organ defects such as heart, kidney, bone, skin, … well variable degrees of cognitive impairments. Besides, social skills, communication relationships are usually disor...

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant characterized by dysmorphic features, mental retardation, and congenital heart disease (CHD). MWS results from microdeletions of chromosome 2q23 or de novo SNVs involving the <i>ZEB2</i> gene. Here, we report on an Egyptian patient diagnosed chromosomal microarray (CMA). A 1-year-old male child was referred to CHD clinic, Nati...