title: Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.
abstract: Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy: A variety of osteodysplasias are referred to with the term chondrodysplasia punctata (CDP). Here we report on two sibs, a boy and a girl, with probable autosomal recessive form of CDP and epilepsy followed-up for 30 and 19 years, respectively. Family history was unremarkable but for consanguinity. Pregnancies and deliveries were uneventful. At birth, length was 46 (-3SD) and 45 (-4SD) cm, respectively. Craniofacial dysmorphism was noted: severe nasal hypoplasia, flat face, hypertelorism, a low nasal bridge, short stature. Skeletal abnormalities included epiphyseal stippling in the thoracic spine, bilateral proximal and distal humeri, femur, tibia and bilateral carpal and tarsal bones. The boy had a hemivertebrae T12, with absence of a rib. After the age of 6 years facial dysmorphism had improved. Final height was 154 cm (-3SD) in the boy and 158 cm (-0,5SD) in the girl. The boy was operated on for scoliosis. Both sibs had club feet, the girl had also genu valgum. IQ was evaluated to be 55 in the girl and 83 in the boy. The first non febrile generalized seizure appeared in the boy when he was 11 months of age, and in the girl when she was 25 months of age. Both had many other seizures and were taking antiepileptics. EEG were abnormal. Karyotypes were normal. Extensive screening for metabolic disorders was normal. Acquired in utero CDP were excluded. We suggest the sibs described in this report have yet another provisionally unique possibly autosomal recessive syndrome, with CDP and epilepsy as phenotypic traits.
authors.affiliation: Laboratoire de Génétique Médicale, Faculte de Medecine, Strasbourg, France. Claude.Stoll@medecine.u-strasbg.fr
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: F
authors.initials: F
authors.lastname: Pauly
authors.forename: J P
authors.initials: JP
authors.lastname: Steib
mesh_terms: D000328:Adult; D001827:Body Height; D002648:Child; D002806:Chondrodysplasia Punctata / Q000145:classification / Q000150:complications* / Q000235:genetics*; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X / Q000235:genetics; D003025:Clubfoot / Q000150:complications / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000150:complications; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007621:Karyotyping; D008297:Male; D000074437:Peroxisomal Targeting Signal 2 Receptor; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D035781:Siblings
chemical_list: D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear