1.
Rev. cient. Esc. Univ. Cienc. Salud
;
8(1): 47-48, ene-. jun. 2021. ilus.
Article
in Spanish
| LILACS, BIMENA
| ID: biblio-1372250
Subject(s)
Humans , Male , Child, Preschool , Dysostoses/diagnosis , Spondylosis , Anus, Imperforate , Thoracic Vertebrae/abnormalities , Radiography/methods
2.
Indian Pediatr
;
2005 Aug; 42(8): 822-6
Article
in English
| IMSEAR
| ID: sea-11084
ABSTRACT
We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.
Subject(s)
Child, Preschool , Chromosome Disorders/diagnosis , Dysostoses/diagnosis , Epiphyses/pathology , Foot Deformities, Congenital/etiology , Genes, Dominant , Hand Deformities, Congenital/etiology , Humans , Hyperplasia , Male , Intellectual Disability/genetics , Syndrome
3.
Arch. argent. pediatr
;
90(4): 233-235, 1992. ilus
Article
in Spanish
| LILACS
| ID: lil-560335
ABSTRACT
Se describe una niña que presenta las características del síndrome de Nager, que consisten principalmente en una disostosis mandibulofacial con anomalías radiales. La mayoría de los casos son esporádicos pero hay evindencias que sugieren herencia monogénica. El diagnóstico prenatal ecográfico puede ser útil.