New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome
Two siblings with a previously undescribed syndrome are presented. They both have severe dwarfism, antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous coloboma (Coloboma of the optic disc). The first siblin...
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| Veröffentlicht in: | Clinical dysmorphology 1992-10, Vol.1 (4), p.221-228 |
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| container_title | Clinical dysmorphology |
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| creator | Nivelon, A Nivelon, J L Mabille, J P Maroteaux, P Feldman, J P Douvier, S Aymé, S |
| description | Two siblings with a previously undescribed syndrome are presented. They both have severe dwarfism, antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous coloboma (Coloboma of the optic disc). The first sibling has a 46,XY karyotype despite normal female internal and external genitalia. She has moderate mental retardation. Gestation of the second sibling was interrupted after antenatal diagnosis. The fetus was 46,XX and very similar to the first case. |
| doi_str_mv | 10.1097/00019605-199210000-00005 |
| format | Article |
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They both have severe dwarfism, antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous coloboma (Coloboma of the optic disc). The first sibling has a 46,XY karyotype despite normal female internal and external genitalia. She has moderate mental retardation. Gestation of the second sibling was interrupted after antenatal diagnosis. 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They both have severe dwarfism, antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous coloboma (Coloboma of the optic disc). The first sibling has a 46,XY karyotype despite normal female internal and external genitalia. She has moderate mental retardation. Gestation of the second sibling was interrupted after antenatal diagnosis. The fetus was 46,XX and very similar to the first case.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Central Nervous System - abnormalities</subject><subject>Disorders of Sex Development - genetics</subject><subject>Eye Abnormalities - genetics</subject><subject>Female</subject><subject>Fetal Growth Retardation - genetics</subject><subject>Genes, Recessive</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Osteochondrodysplasias - congenital</subject><subject>Osteochondrodysplasias - diagnostic imaging</subject><subject>Osteochondrodysplasias - genetics</subject><subject>Radiography</subject><subject>Syndrome</subject><issn>0962-8827</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkEtPwzAMgHMAjTH4CUg9cQs46SPJEU2MIU1wgXOUNq5W1C4lXkH793QP4OKH_NmWPsYSAXcCjLoHAGEKyLkwRoqxA74P-Rmbgikk11qqC3ZJ9HEAjZqwiUgzqVU2ZYsX_E7csA0UOtcmESskar4wqdZh42PwO-pbR43jvCccfFhj7Fy_HicNdQnt9lCHV-y8di3h9SnP2Pvi8W2-5KvXp-f5w4pXUuZbLk0GtU9LKIwvtCuVSZWXGlTmNEpV56p0qdEuH0usFBSyrLwAJWonvDMinbHb490-hs8BaWu7hipsW7fBMJBVeQ6FOoD6CFYxEEWsbR-bzsWdFWD32uyvNvunzR60jas3px9D2aH_Xzw6S38A4RZrVg</recordid><startdate>199210</startdate><enddate>199210</enddate><creator>Nivelon, A</creator><creator>Nivelon, J L</creator><creator>Mabille, J P</creator><creator>Maroteaux, P</creator><creator>Feldman, J P</creator><creator>Douvier, S</creator><creator>Aymé, S</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>199210</creationdate><title>New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome</title><author>Nivelon, A ; Nivelon, J L ; Mabille, J P ; Maroteaux, P ; Feldman, J P ; Douvier, S ; Aymé, S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c225t-2940fd3b069d68ab7937d28074a8e27f57ba398a57f5ec7062bcd1071fa1da913</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Central Nervous System - abnormalities</topic><topic>Disorders of Sex Development - genetics</topic><topic>Eye Abnormalities - genetics</topic><topic>Female</topic><topic>Fetal Growth Retardation - genetics</topic><topic>Genes, Recessive</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Osteochondrodysplasias - congenital</topic><topic>Osteochondrodysplasias - diagnostic imaging</topic><topic>Osteochondrodysplasias - genetics</topic><topic>Radiography</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nivelon, A</creatorcontrib><creatorcontrib>Nivelon, J L</creatorcontrib><creatorcontrib>Mabille, J P</creatorcontrib><creatorcontrib>Maroteaux, P</creatorcontrib><creatorcontrib>Feldman, J P</creatorcontrib><creatorcontrib>Douvier, S</creatorcontrib><creatorcontrib>Aymé, S</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical dysmorphology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nivelon, A</au><au>Nivelon, J L</au><au>Mabille, J P</au><au>Maroteaux, P</au><au>Feldman, J P</au><au>Douvier, S</au><au>Aymé, S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome</atitle><jtitle>Clinical dysmorphology</jtitle><addtitle>Clin Dysmorphol</addtitle><date>1992-10</date><risdate>1992</risdate><volume>1</volume><issue>4</issue><spage>221</spage><epage>228</epage><pages>221-228</pages><issn>0962-8827</issn><abstract>Two siblings with a previously undescribed syndrome are presented. 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| language | eng |
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| source | MEDLINE; Journals@Ovid Complete |
| subjects | Abnormalities, Multiple - genetics Central Nervous System - abnormalities Disorders of Sex Development - genetics Eye Abnormalities - genetics Female Fetal Growth Retardation - genetics Genes, Recessive Humans Infant, Newborn Osteochondrodysplasias - congenital Osteochondrodysplasias - diagnostic imaging Osteochondrodysplasias - genetics Radiography Syndrome |
| title | New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome |
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