Van der Woude syndrome (VWS) is an autosomal dominant syndrome due to mutation of a gene located in the long arm of chromosome 1 (1q32.3-q4) called the interferon regulatory factor-6 (IRF6) gene. VW syndrome-affected children are born with a cleft lip or palate, hypodontia (absent teeth), and bilateral paramedian lower-lip pits, which are usually moist because they are often associated with accessory salivary glands and mucous glands that empty into the pits. Popliteal pterygium syndrome (PPS), also known as a fasciogenito-popliteal syndrome or popliteal web syndrome is a rare autosomal dominant disorder with an incidence of approximately 1 in 300,000 live births. The most common clinical manifestations are popliteal webbing, cleft palate, cleft lip, syndactyly, and genital and nail anomalies. This report describes the clinical features in one case with positive family history, showing the range of anomalies found in popliteal pterygium with VWS.
Wiedemann-Rautenstrauch Syndrome (WRS), also known as neonatal progeroid syndrome, is an extremely rare genetic syndrome characterized by a senile appearance at birth with multiple complex symptoms. We reported a case of a three-days old male neonate with features of WRS presented with fatal hyperkalemic renal failure which is a unique presentation not reported before in the cases affected with this syndrome. There is a positive family history of a previous sibling with the same features who suddenly died during the first week of life. This case report aimed to increase the awareness of WRS about the features and the importance of close follow-up of the affected cases, especially in the neonatal period among neonatal physicians.
Multisystem inflammatory syndrome in children (MIS-C) is a rare hyperinflammatory syndrome that mainly affects children after a primary infection with coronavirus disease 2019 (COVID-19), with the possibility of severe and lethal complications. We report a case of a unique presentation of MIS-C in a four-year-old boy who presented with severe agitation, muscle spasms, and two days of fever. Other findings consistent with MIS-C were revealed later, and he was managed with intravenous immunoglobulin (IVIG) and steroids. He showed a dramatic response of improvement and was discharged. This case report aimed to raise health professionals' awareness about the atypical presentations of MIS-C and the importance of early diagnosis, treatment, and follow-up MIS-C cases to avoid complications affecting children's lives.
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