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Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.
Genet Couns. 2004; 15(4):411-20.GC

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+Show Affiliations

Laboratoire de Génétique Médicale, Faculte de Medecine, Strasbourg, France. Claude.Stoll@medecine.u-strasbg.frNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15658616

Citation

Stoll, C, et al. "Long Term Follow-up of Two Sibs With an Autosomal Recessive Form of Chrondrodysplasia Punctata and Epilepsy." Genetic Counseling (Geneva, Switzerland), vol. 15, no. 4, 2004, pp. 411-20.
Stoll C, Pauly F, Steib JP. Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy. Genet Couns. 2004;15(4):411-20.
Stoll, C., Pauly, F., & Steib, J. P. (2004). Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy. Genetic Counseling (Geneva, Switzerland), 15(4), 411-20.
Stoll C, Pauly F, Steib JP. Long Term Follow-up of Two Sibs With an Autosomal Recessive Form of Chrondrodysplasia Punctata and Epilepsy. Genet Couns. 2004;15(4):411-20. PubMed PMID: 15658616.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy. AU - Stoll,C, AU - Pauly,F, AU - Steib,J P, PY - 2005/1/22/pubmed PY - 2005/4/22/medline PY - 2005/1/22/entrez SP - 411 EP - 20 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 15 IS - 4 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/15658616/Long_term_follow_up_of_two_sibs_with_an_autosomal_recessive_form_of_chrondrodysplasia_punctata_and_epilepsy_ L2 - http://www.diseaseinfosearch.org/result/2593 DB - PRIME DP - Unbound Medicine ER -