title: [Spondylo-epiphyseal dysplasia associated with craniosynostosis, cleft palate and mental retardation. A case report].
abstract: Skeletal dysplasias are a heterogeneous group of disorders characterized by an alteration of the organization of osseous tissue causing a distortion on the growth and development pattern of bones. In 1998, four Japanese sibs were described by the first time, three males and one female who presented a previously undescribed spondylo-epiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate and different grades of mental retardation. A probable autosomic recessive inheritance was suggested, but a germinal mosaicism could not be discarded. This is a case report of a patient with clinical and radiological findings similar to the ones previously described, born to second degree consanguineous parents. This supports the postulated presumption of a mutation with an autosomic recessive inheritance. The present communication represents the fifth case reported in the literature and the second familiar group affected.
authors.affiliation: Unidad de Genética Médica, Universidad Centroccidental Lisandro Alvarado, Barquisimeto, Venezuela. aurita.dhm@gmail.com
authors.forename: Aura D
authors.initials: AD
authors.lastname: Herrera-Martínez
authors.forename: Pedro
authors.initials: P
authors.lastname: Estrada-Corona
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000022:Abortion, Spontaneous; D000328:Adult; D002386:Cataract / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics*; D003094:Collagen / Q000235:genetics; D003241:Consanguinity; D003398:Craniosynostoses / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D003094:Collagen