Cartilage-hair hypoplasia syndrome: implications for prenatal diagnosis.
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia characterized by short stature, sparse hair, and a variable degree of immunodeficiency. We describe here the prenatal diagnosis of CHH in a woman who was previously delivered of a similarly affected infant. In addition, we review the prenatal diagnostic implications of the localization, by linkage analysis, of the gene responsible for many cases of CHH.
Dungan
J S
JS
Department of Obstetrics and Gynecology, University of Tennessee, Memphis 38103-2896, USA.
Emerson
D S
DS
Phillips
O P
OP
Shulman
L P
LP
D000328:Adult; D005260:Female; D006197:Hair; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D016216:Ultrasonography, Prenatal