X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.
We describe a family with an X-linked dominant chondrodysplasia. Four males and six females were affected through four generations. Identification of skeletal abnormalities and hydrocephaly during the pregnancy of three male fetuses led to termination of the pregnancies. A fourth affected male died at 6 days of life. The four patients had chondrodysplasia, hydrocephaly, and facial features with microphthalmia. Radiographs showed severe platyspondyly and various bone abnormalities including a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. The affected females were less affected and showed small stature, sometimes associated with body asymmetry and mild mental retardation. This condition appears to be a previously unrecognized X-linked dominant chondrodysplasia.
Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, France.
Nicolas
N
Chassaing
Virginie
V
Siani
Dominique
D
Carles
Anne Lise
AL
Delezoide
Eve Marie
EM
Alberti
Jacques
J
Battin
Jean François
JF
Chateil
Brigitte
B
Gilbert-Dussardier
Isabelle
I
Coupry
Benoit
B
Arveiler
Robert
R
Saura
Didier
D
Lacombe
D000025:Abortion, Eugenic; D041321:Chromosomes, Human, X / Q000235:genetics; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005799:Genes, Dominant; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology*; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D008850:Microphthalmos / Q000473:pathology; D018895:Microsatellite Repeats; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis