title: [Osteopetrosis with carbonic anhydrase II deficiency: report of 24 cases].
abstract: Twenty four patients suffering from osteopetrosis caused by carbonic anhydrase II deficiency are colliged. This pathology seems to be frequent in Tunisia. Mental retardation is present in 52%, 85% of patients have short stature and 25% have optic atrophy. All affected subjects show craniofacial disproportion and dental anomalies. Twenty patients have at least one bone fracture. Metabolic acidosis is constant: it is profound during the first life decade. A severe selective reduction of carbonic anhydrase II in erythrocyte is confirmed in 18 cases. Osteosclerosis and defective skeletal modelling are constant, cerebral calcification can be seen at the scanner approximately at the age of two years and six months. All patients are homozygous for a splice junction mutation in intron 2 of the carbonic anhydrase II gene, this mutation does not seem to protect patients from bone fractures nor induce a severe metabolic acidosis.
authors.affiliation: Service de Pédiatrie, EPS Mongi Slim, La Marsa.
authors.forename: Halioui-Louhaichi
authors.initials: HL
authors.lastname: Sonia
authors.forename: Fraj
authors.initials: F
authors.lastname: Mohamed
authors.forename: Bejaoui
authors.initials: B
authors.lastname: Mohamed
authors.forename: Alouini
authors.initials: A
authors.lastname: Rafika
authors.forename: Fathallah
authors.initials: F
authors.lastname: Dehmani
authors.forename: Dallagi
authors.initials: D
authors.lastname: Kossay
authors.forename: Hammou
authors.initials: H
authors.lastname: Azza
mesh_terms: D000293:Adolescent; D024402:Carbonic Anhydrase II / Q000172:deficiency* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007438:Introns; D008297:Male; D009154:Mutation; D010022:Osteopetrosis / Q000209:etiology* / Q000235:genetics; D014416:Tunisia
chemical_list: D024402:Carbonic Anhydrase II