Emanuel syndrome

Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
29666339
 MIXED_SAMPLE Infant
Phenotypic characterization of derivative 22 syndrome: case series and review.
Saxena D, Srivastava P, Tuteja M, Mandal K, Phadke SR.
J Genet. 2018;97(1):205-211.
Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.
25603733
 MIXED_SAMPLE Infant
Anesthetic management of pediatric patients with Emanuel syndrome.
Nishinarita R, Mihara T, Nakamura N, Miyamoto Y, Ka K.
J Anesth. 2015;29(3):450-452.
Moreover, adequate preparation for a difficult airway is essential, and the Airtraq() device may be useful for intubating patients with Emanuel syndrome with micrognathia.