title: Sanjad Sakati syndrome: a case series from Jordan.
abstract: Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental consanguinity was recorded in all families. This is the first genetically proven case series of Sanjad Sakati syndrome in Jordan.
authors: Department of Pediatrics, Jordan University Hospital, Amman, Jordan. jumanabaramki@hotmail.com
authors: J
authors: J
authors: Albaramki
authors: K
authors: K
authors: Akl
authors: A
authors: A
authors: Al-Muhtaseb
authors: M
authors: M
authors: Al-Shboul
authors: T
authors: T
authors: Mahmoud
authors: M
authors: M
authors: El-Khateeb
authors: H
authors: H
authors: Hamamy
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003241:Consanguinity; D005260:Female; D005820:Genetic Testing; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007597:Jordan; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D012640:Seizures / Q000175:diagnosis / Q000235:genetics
chemical_list: D018832:Molecular Chaperones; C469270:TBCE protein, human