The Experts below are selected from a list of 336 Experts worldwide ranked by ideXlab platform
Annelise Delezoide - One of the best experts on this subject based on the ideXlab platform.
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severe phenotype of cutis laxa type 1b with antenatal signs due to a novel homozygous nonsense mutation in efemp2
Molecular Syndromology, 2018Co-Authors: Pascaline Letard, Dorien Schepers, Juliette Albuisson, P Bruneval, Emmanuel Spaggiari, Gerarda Van De Beek, Suonavy Khungsavatovsky, Nadia Belarbi, Yline Capri, Annelise DelezoideAbstract:EFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of this connective tissue disease were already seen during the second trimester of pregnancy, then confirmed and clarified at autopsy. Anomalies included cutis laxa, arachnodactyly, clubfoot, Wormian Bones, moderate bowing of long Bones with slender bone trabeculae, rib fractures, undermuscularized diaphragm, hiatal hernia, and arterial tortuosity with thick vascular walls and disorganized elastic fibers. Sequencing of the EFEMP2 gene revealed a novel homozygous nonsense mutation: c.639C>A (p.Cys213*). We performed a thorough histological analysis and discuss differential diagnoses, genotype-phenotype correlations, and the challenge of prenatal diagnosis of this disease.
Alain Verloes - One of the best experts on this subject based on the ideXlab platform.
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Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
American journal of medical genetics. Part A, 2016Co-Authors: Damien Haye, Hend Dridi, Jonathan Lévy, Véronique Lambert, Maurice Lambert, Mohamed Agha, Frédéric Adjimi, Jürgen Kohlhase, Dan Lipsker, Alain VerloesAbstract:Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in the post-translational modification of lamin. Nine distinct pathogenic variants have been identified in 11 patients from nine unrelated families with this disorder. We report a 12-year-old boy with mandibuloacral dysplasia with type B lipodystrophy and a novel homozygous c.1196A>G; p.(Tyr399Cys) mutation in ZMPSTE24. The patient had typical dermatological and skeletal features of mandibuloacral dysplasia with type B lipodystrophy, sparse hair, short stature, mild microcephaly, facial dysmorphism, and a striking failure of ossification of the interparietal region of the occipital bone, up to the position where transverse occipital suture can be observed. Newly recognized signs for mandibuloacral dysplasia with type B lipodystrophy were gaze palsy and ptosis. Delayed closure of cranial sutures and Wormian Bones have been described in three patients, but an ossification failure strictly limited to the occipital bone, as seen in the present patient, appears to be unique for mandibuloacral dysplasia with type B lipodystrophy. This observation illustrates that ZMPSTE24 could play a specific role in membranous ossification in the interparietal part of the squama (Inca bone) but not in the intracartilaginous ossification of the supraoccipital. This failure of ossification in the squama appears to be a useful feature for the radiological diagnosis of mandibuloacral dysplasia with type B lipodystrophy. © 2016 Wiley Periodicals, Inc.
F. Michael Pope - One of the best experts on this subject based on the ideXlab platform.
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Congenital cutis laxa and lysyl oxidase deficiency.
Clinical genetics, 2008Co-Authors: Abbas Khakoo, Roswyn Thomas, Richard S. Trompeter, Patrick G. Duffy, Robert G. Price, F. Michael PopeAbstract:We report two phenotypically similar patients with primary cutis laxa associated with deficiency of lysyl oxidase, an extracellular copper enzyme the gene for which is located on chromosome 5. Previous reports of this condition have had characteristic occipital projections, abnormality of copper metabolism and X-linked inheritance. The two reported patients have no occipital projections, normal copper metabolism, Wormian Bones, and a pattern of inheritance consistent with the autosomal recessive inheritance of the lysyl oxidase gene.
Lionel Van Maldergem - One of the best experts on this subject based on the ideXlab platform.
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congenital cutis laxa with ligamentous laxity and delayed development dandy walker malformation and minor heart and osseous defects
Clinical Genetics, 2008Co-Authors: Armand Biver, Sabine De Rijcke, V Toppet, Marguerite Ledouxgorbusier, Lionel Van MaldergemAbstract:We present a female infant exhibiting congenital cutis laxa with retardation of growth and motor development, ligamentous laxity and congenital dislocation of the hips. This connective tissue disorder was associated with Dandy-Walker malformation, atrial and ventricular defect and minor bone abnormalities including multiple Wormian Bones, abnormal tubulation of long Bones and absent twelfth pair of ribs. This association is believed to be unique.
Pascaline Letard - One of the best experts on this subject based on the ideXlab platform.
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severe phenotype of cutis laxa type 1b with antenatal signs due to a novel homozygous nonsense mutation in efemp2
Molecular Syndromology, 2018Co-Authors: Pascaline Letard, Dorien Schepers, Juliette Albuisson, P Bruneval, Emmanuel Spaggiari, Gerarda Van De Beek, Suonavy Khungsavatovsky, Nadia Belarbi, Yline Capri, Annelise DelezoideAbstract:EFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of this connective tissue disease were already seen during the second trimester of pregnancy, then confirmed and clarified at autopsy. Anomalies included cutis laxa, arachnodactyly, clubfoot, Wormian Bones, moderate bowing of long Bones with slender bone trabeculae, rib fractures, undermuscularized diaphragm, hiatal hernia, and arterial tortuosity with thick vascular walls and disorganized elastic fibers. Sequencing of the EFEMP2 gene revealed a novel homozygous nonsense mutation: c.639C>A (p.Cys213*). We performed a thorough histological analysis and discuss differential diagnoses, genotype-phenotype correlations, and the challenge of prenatal diagnosis of this disease.
