18p deletion syndrome: Case report with clinical consideration and management

18p deletion syndrome is characterized by the deletion of short arm of chromosome 18. Presentation of this syndrome is quite variable with dysmorphic features, growth deficiencies, and mental retardation with poor verbal performance. Few patients even fail to thrive when malformations involving the heart and brain are severe. In the present article, we report an isolated case of 18p deletion in a 23-year-old female who for the first time reported to the hospital for dental problems. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities. Such presentation warrants prompt diagnosis for effective management. Furthermore, genetic counseling for such patients and their families should be considered as a part of treatment itself

Nager′s acrofacial dysostosis

Acrofacial dysostosis (AFD) is a generic name for a variety of different but possibly related genetic disorders that result in craniofacial and limb malformations and are, therefore, categorized under oroacral disorders. Several different variants have been identified and Nager preaxial AFD represents the association of mandibulofacial dysostosis with limb anomalies, particularly hypoplasia of the radial aspect of the hand. This report features a case of a 21-year-old male presenting with malar hypoplasia, downward sloping palpebral fissures, high-arched palate, radioulnar synostosis, hypoplasia of the right thumb and lower limb anomalies