title: Grebe syndrome: a rare association with congenital heart disease.
abstract: Grebe syndrome is a very rare form of short-limbed dwarfism. It is a genetic condition, passed by autosomal recessive inheritance. It is characterized by marked acromesomelic shortening of all the four limbs. There are no other associated anomalies. The affected baby has normal intelligence and normal life span. We present here a case of Grebe syndrome along with congenital heart disease.
authors.affiliation: Department of Paediatrics, Combined Military Hospital, Rawalpindi. jawadjalil2002@hotmail.com
authors.forename: Jawad
authors.initials: J
authors.lastname: Jalil
authors.forename: Mobeen
authors.initials: M
authors.lastname: Shafique
authors.lastname: Ehtesham-ul-Haq
mesh_terms: D000015:Abnormalities, Multiple; D003937:Diagnosis, Differential; D004452:Echocardiography; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis* / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D051598:Whole Body Imaging