title: A child with Roberts syndrome.
abstract: Roberts syndrome is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb deficiency, it is important to be identified in order to give accurate genetic counselling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 22 days old male infant who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome.
authors.affiliation: Department of Paediatrics Medicine, The Children's Hospital and The Institute of Child Health, Lahore. rabiaabbas77@gmail.com
authors.forename: Rabia
authors.initials: R
authors.lastname: Abbas
authors.forename: Sahar
authors.initials: S
authors.lastname: Waqar
authors.forename: Tahir Masood
authors.initials: TM
authors.lastname: Ahmad
authors.forename: Khawaja Ahmad
authors.initials: KA
authors.lastname: Irfan Waheed
authors.forename: Tipu
authors.initials: T
authors.lastname: Sultan
authors.forename: Ahmad Usaid
authors.initials: AU
authors.lastname: Qureshi
mesh_terms: D000123:Acetyltransferases / Q000235:genetics*; D000293:Adolescent; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D004480:Ectromelia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010290:Parents; D016133:Polymerase Chain Reaction; D011379:Prognosis; D055815:Young Adult
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004247:DNA; D000123:Acetyltransferases; C500785:ESCO2 protein, human