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.
Chassaing
Nicolas
N
Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, France.
Siani
Virginie
V
Carles
Dominique
D
Delezoide
Anne Lise
AL
Alberti
Eve Marie
EM
Battin
Jacques
J
Chateil
Jean François
JF
Gilbert-Dussardier
Brigitte
B
Coupry
Isabelle
I
Arveiler
Benoit
B
Saura
Robert
R
Lacombe
Didier
D
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