title: Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: a variant of Niikawa-Kuroki syndrome or a new syndrome?
abstract: We report a 10-year-old boy with multiple congenital anomalies/mental retardation syndrome, who also presented with aganglionosis and neurogenic muscle weakness. Some phenotypic manifestations of our patient overlap with those observed in the Niikawa-Kuroki syndrome; however, the hypothesis of a new distinct entity, with simultaneous involvement of the central and peripheral nervous system, is considered.
authors.affiliation: Department of Pediatrics, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy. dgreco@oasi.en.it
authors.forename: D
authors.initials: D
authors.lastname: Greco
authors.forename: C
authors.initials: C
authors.lastname: Romano
authors.forename: M
authors.initials: M
authors.lastname: Elia
mesh_terms: D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D002493:Central Nervous System Diseases; D002648:Child; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005724:Ganglia / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D008297:Male; D018908:Muscle Weakness; D009460:Neurologic Examination; D010523:Peripheral Nervous System Diseases; D010641:Phenotype; D013577:Syndrome