Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads

Genetic Counseling

Volumn 7, Issue 3, 1996, Pages 187-191

  Hernandez, A ^a,e   Nazara, Z ^b   Reynoso, M C ^c   Lizcano Gil, L A ^d   Lopez, R ^b   Sarralde, A ^e   Fragoso, R ^a  

^a Ctro Invest Biomedica de Occidente   (Mexico)

^b INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^c Secretaria de Salud Jalisco   (Mexico)

^d Maestria en Genética Humana ^*  (Mexico)

^e UNIVERSITY OF GUADALAJARA   (Mexico)

Author keywords

Autosomal dominant; Capital femoral dysplasia; Short stature

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE DYSPLASIA; CASE REPORT; COMPARATIVE STUDY; EPIPHYSIS; FEMUR HEAD; HEREDITARY CONNECTIVE TISSUE DISEASE; HUMAN; INFANT; MALE; SHORT STATURE; SPONDYLOEPIPHYSEAL DYSPLASIA;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DWARFISM; EPIPHYSES; FEMUR HEAD; GENES, DOMINANT; HUMANS; INFANT; MALE; OSTEOCHONDRODYSPLASIAS;

EID: 0029778273     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. BEIGHTON P., CHRISTY G., LEARMONTH I.D.: Namaqualand hip dysplasia: an autosomal dominant entity. Am. J. Med. Genet., 1984, 19, 161-169.
2. BEIGHTON P., GOLBERG L., Op'T HOF J.: Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness. Clin. Genet., 1978, 14, 173-177
3. LEARMONTH I.D., CHRISTY G., BEIGHTON P.: Namaqualand hip dysplasia: Orthopedic implications. Clin. Orthop Relat. Res., 1987, 218, 142-147.
4. MacDERMOT K.D., ROTH S.C., HALL C., WINTER R.M.: Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia and sensorineural deafness : report of a pedigree with autosomal dominant inheritance. J. Med. Genet., 1987, 24, 602-608.
5. MCKUSICK V.A.: Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes. Tenth edition. Baltimore, 1992 The Johns Hopkins University Press.
6. PFEIFFER R.A., JUNEMANN G., POLSTER J., BAUER H.: Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers. Clin. Genet., 1973, 4, 141-144.
7. SHER C., RAMESAR R., MARTELL R., LEARMONTH I., TSIPURAS P. BEIGHTON P.: Mild Spondyloepiphyseal Dysplasia (Namaqualand type): Genetic linkage to the type II Collagen Gene (COLD2A1). Am. J. Hum. Genet., 1991, 48, 518-524.
8. SPRANGER J.W. AND WIEDEMANN H.R.: Dysplasia spondyloepiphyseal congenita. Helv. Paediat. Acta., 1966, 21, 598-611.