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Jean-pierre Fryns - One of the best experts on this subject based on the ideXlab platform.
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Tentative clinical diagnosis of Lujan-Fryns Syndrome-A conglomeration of different genetic entities?
American Journal of Medical Genetics Part A, 2015Co-Authors: Karl Hackmann, Jean-pierre Fryns, Andreas Rump, Stefan A. Haas, Johannes R. Lemke, Andreas Tzschach, Dagmar Wieczorek, Beate Albrecht, Alma Kuechler, Tim RippergerAbstract:The clinical diagnosis of Lujan-Fryns Syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of Syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation. By molecular karyotyping we detected other disorders, i.e., Phelan-McDermid Syndrome and 16p11.2 microduplication, each in one patient. One affected individual was carrier of a different recurrent duplication on 16p11.2 that has been reported several times to the DECIPHER and ISCA databases in individuals with autism, intellectual disability (ID), and developmental delay. It may represent a new duplication Syndrome. We also identified previously unreported de novo duplication on chromosome 12p13.31 which we considered to be disease-causing. X-exome sequencing of four individuals revealed private or non-recurrent mutations in NKAP and LAS1L in one patient each. While LFS is defined as a form of XLID, there seem to be various conditions that have rather similar phenotypes. Therefore, the combination of ID and marfanoid habitus in a male patient is not sufficient for the diagnosis of LFS. We suggest that the diagnosis of LFS in patients with ID and marfanoid habitus should be made only in presence of specific facial features, nasal speech and obvious X-linked segregation of the disorder or an unambiguously pathogenic mutation in the MED12.
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The Fryns Syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance.
Clinical genetics, 2008Co-Authors: P. Meinecke, Jean-pierre FrynsAbstract:A further example of the Fryns Syndrome is reported. The female infant presented a malformation Syndrome with coarse facies including cleft lip and palate, distal limb hypoplasia, a diaphragmatic defect, and excessive body hair, most pronounced on the face. She died 5 days after birth. Consanguinity in the parents supports the hypothesis of autosomal recessive inheritance. Considering the severity of the internal malformations and the poor prognosis of this Syndrome, prenatal ultrasound diagnosis in the 2nd trimester of pregnancies at risk should be attempted.
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Lujan-Fryns Syndrome (mental retardation, X-linked, marfanoid habitus)
Orphanet journal of rare diseases, 2006Co-Authors: Griet Van Buggenhout, Jean-pierre FrynsAbstract:The Lujan-Fryns Syndrome or X-linked mental retardation with marfanoid habitus Syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The Syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead), tall marfanoid stature and long slender extremities, and behavioural problems. The genetic defect is not known. The diagnosis is based on the presence of the clinical manifestations. Genetic counselling is according to X-linked recessive inheritance. Prenatal testing is not possible. There is no specific treatment for this condition. Patients need special education and psychological follow-up, and attention should be given to diagnose early psychiatric disorders.
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lujan Fryns Syndrome in the differential diagnosis of schizophrenia
American Journal of Medical Genetics, 1996Co-Authors: Marc De Hert, Jean-pierre Fryns, Dirk Steemans, Paul Theys, J PeuskensAbstract:Schizophrenia is considered to be a heterogenous disorder. Different etiopathological mechanisms can be attributed to a similar clinical picture as described in DSM-III-R criteria. We present a case of a young man diagnosed on different occasions as schizophrenic with mild mental retardation. Clinical examination revealed signs and symptoms most compatible with the diagnosis of Lujan-Fryns Syndrome, an X-linked mental retardation Syndrome with marfanoid features, frequently associated with psychotic or other psychiatric symptoms. In all patients with symptoms of schizophrenia and mental retardation Lujan-Fryns Syndrome should be considered in the differential diagnosis. © 1996 Wiley-Liss, Inc.
Sylvain Samperiz - One of the best experts on this subject based on the ideXlab platform.
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Fryns Syndrome without diaphragmatic hernia, DOOR Syndrome or Fryns-like Syndrome? Report on patients from Indian Ocean islands
American Journal of Medical Genetics Part A, 2014Co-Authors: Jean-luc Alessandri, Fabrice Cuillier, Valérie Malan, Claire Brayer, Maeva Grondard, Laure Jacquemot-dekkak, Marie Kieffer-traversier, Florence Pierre, Céline Laurain, Sylvain SamperizAbstract:We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations (genitourinary or cerebral), abnormal electroencephalograms with impaired neurological examination and lethal outcome. Massive polyhydramnios was noted in the third trimester of pregnancy and neonatal growth was normal or excessive. The combination of the features is consistent with the diagnosis of Fryns Syndrome (FS) without congenital diaphragmatic hernia. Besides chromosomal aberrations and microdeletion Syndrome, differential diagnoses include conditions overlapping with FS such as Simpson-Golabi-Behmel, and conditions with hypoplasia/absence of the distal phalanges such as DOOR Syndrome, Schinzel-Giedion Syndrome, and Rudiger Syndrome.
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Fryns Syndrome without diaphragmatic hernia, DOOR Syndrome or Fryns-like Syndrome? Report on patients from Indian Ocean islands
American Journal of Medical Genetics Part A, 2013Co-Authors: Jean-luc Alessandri, Fabrice Cuillier, Valérie Malan, Claire Brayer, Maeva Grondard, Laure Jacquemot-dekkak, Marie Kieffer-traversier, Florence Pierre, Céline Laurain, Sylvain SamperizAbstract:International audienceWe report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations (genitourinary or cerebral), abnormal electroencephalograms with impaired neurological examination and lethal outcome. Massive polyhydramnios was noted in the third trimester of pregnancy and neonatal growth was normal or excessive. The combination of the features is consistent with the diagnosis of Fryns Syndrome (FS) without congenital diaphragmatic hernia. Besides chromosomal aberrations and microdeletion Syndrome, differential diagnoses include conditions overlapping with FS such as Simpson-Golabi-Behmel, and conditions with hypoplasia/absence of the distal phalanges such as DOOR Syndrome, Schinzel-Giedion Syndrome, and Rudiger Syndrome
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Fryns Syndrome without diaphragmatic hernia report on a new case and review of the literature
Genetic Counseling, 2005Co-Authors: L Alessandri, Claire Brayer, Sylvain Samperiz, T Attali, I Tiranrajaofera, D Ramful, H PilorgetAbstract:Fryns Syndrome without diaphragmatic hernia. Report on a new case and review of the literature: Fryns Syndrome is an autosomal recessive multiple congenital anomaly Syndrome characterized by coarse fades, diaphragmatic hernia, distal limb hypoplasia and malformations of the cardiovascular, gastrointestinal, genltourinary and central nervous systems. Diaphragmatic hernia is a leading diagnostic feature in Fryns Syndrome, recorded In more than 80 % of cases. We report a newborn with clinical features of Fryns Syndrome except the diaphragmatic hernia. Cases of Fryns Syndrome without diaphragmatic hernia are reviewed. Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns Syndrome, especially pulmonary hypoplasia. Fetal mice. exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns Syndrome. Nitrofen might target molecular mechanisms similar to those involved in Fryns Syndrome.
Jean-luc Alessandri - One of the best experts on this subject based on the ideXlab platform.
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recessive loss of function pign alleles including an intragenic deletion with founder effect in la reunion island in patients with Fryns Syndrome
European Journal of Human Genetics, 2018Co-Authors: Jean-luc Alessandri, Christopher T Gordon, Marieline Jacquemont, Nicolas Gruchy, Norbert F Ajeawung, G Benoist, Myriam Oufadem, Asma ChebilAbstract:Fryns Syndrome (FS) is a multiple malformations Syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations. FS is typically lethal in the fetal or neonatal period. Inheritance is presumed autosomal recessive. Although no major genetic cause has been identified for FS, biallelic truncating variants in PIGN, encoding a component of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, have been identified in a limited number of cases with a phenotype compatible with FS. Biallelic variants in PIGN, typically missense or compound missense with truncating, also cause multiple congenital anomalies-hypotonia-seizures Syndrome 1 (MCAHS1). Here we report six further patients with FS with or without congenital diaphragmatic hernia and recessive loss of function PIGN alleles, including an intragenic deletion with a likely founder effect in La Reunion and other Indian Ocean islands. Our results support the hypothesis that a spectrum of phenotypic severity is associated with recessive PIGN variants, ranging from FS at the extreme end, caused by complete loss of function, to MCAHS1, in which some residual PIGN function may remain. Our data add FS resulting from PIGN variants to the catalog of inherited GPI deficiencies caused by the disruption of the GPI-anchor biosynthesis pathway.
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Fryns Syndrome without diaphragmatic hernia, DOOR Syndrome or Fryns-like Syndrome? Report on patients from Indian Ocean islands
American Journal of Medical Genetics Part A, 2014Co-Authors: Jean-luc Alessandri, Fabrice Cuillier, Valérie Malan, Claire Brayer, Maeva Grondard, Laure Jacquemot-dekkak, Marie Kieffer-traversier, Florence Pierre, Céline Laurain, Sylvain SamperizAbstract:We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations (genitourinary or cerebral), abnormal electroencephalograms with impaired neurological examination and lethal outcome. Massive polyhydramnios was noted in the third trimester of pregnancy and neonatal growth was normal or excessive. The combination of the features is consistent with the diagnosis of Fryns Syndrome (FS) without congenital diaphragmatic hernia. Besides chromosomal aberrations and microdeletion Syndrome, differential diagnoses include conditions overlapping with FS such as Simpson-Golabi-Behmel, and conditions with hypoplasia/absence of the distal phalanges such as DOOR Syndrome, Schinzel-Giedion Syndrome, and Rudiger Syndrome.
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Fryns Syndrome without diaphragmatic hernia, DOOR Syndrome or Fryns-like Syndrome? Report on patients from Indian Ocean islands
American Journal of Medical Genetics Part A, 2013Co-Authors: Jean-luc Alessandri, Fabrice Cuillier, Valérie Malan, Claire Brayer, Maeva Grondard, Laure Jacquemot-dekkak, Marie Kieffer-traversier, Florence Pierre, Céline Laurain, Sylvain SamperizAbstract:International audienceWe report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations (genitourinary or cerebral), abnormal electroencephalograms with impaired neurological examination and lethal outcome. Massive polyhydramnios was noted in the third trimester of pregnancy and neonatal growth was normal or excessive. The combination of the features is consistent with the diagnosis of Fryns Syndrome (FS) without congenital diaphragmatic hernia. Besides chromosomal aberrations and microdeletion Syndrome, differential diagnoses include conditions overlapping with FS such as Simpson-Golabi-Behmel, and conditions with hypoplasia/absence of the distal phalanges such as DOOR Syndrome, Schinzel-Giedion Syndrome, and Rudiger Syndrome
Frances Flinter - One of the best experts on this subject based on the ideXlab platform.
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terminal deletion of chromosome 5p in a patient with phenotypical features of lujan Fryns Syndrome
American Journal of Medical Genetics Part A, 2003Co-Authors: E Stathopulu, Mackie C Ogilvie, Frances FlinterAbstract:We report a young man with phenotypical features suggestive of Lujan–Fryns Syndrome and behaviour of an autistic spectrum disorder, who has a subtle terminal deletion of the short arm of chromosome 5. Individuals reported previously with a similar chromosomal abnormality have had developmental delay and a ‘breathy, raspy’ voice. It may be appropriate to consider screening patients with a phenotype suggestive of Lujan–Fryns Syndrome by fluorescence in situ hybridisation (FISH) using a probe for the subtelomeric region of the short arm of chromosome 5. © 2003 Wiley-Liss, Inc.
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Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns Syndrome.
American journal of medical genetics. Part A, 2003Co-Authors: E Stathopulu, C Mackie Ogilvie, Frances FlinterAbstract:We report a young man with phenotypical features suggestive of Lujan-Fryns Syndrome and behaviour of an autistic spectrum disorder, who has a subtle terminal deletion of the short arm of chromosome 5. Individuals reported previously with a similar chromosomal abnormality have had developmental delay and a 'breathy, raspy' voice. It may be appropriate to consider screening patients with a phenotype suggestive of Lujan-Fryns Syndrome by fluorescence in situ hybridisation (FISH) using a probe for the subtelomeric region of the short arm of chromosome 5.
Enid Gilbertbarness - One of the best experts on this subject based on the ideXlab platform.
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a Fryns Syndrome like phenotype with mosaic t 1 22 q12 p12 chromosomal translocation
Clinical Dysmorphology, 2004Co-Authors: Atif A Ahmed, Enid GilbertbarnessAbstract:Abstract We report a case of Fryns Syndrome-like phenotype with chromosomal translocation. Not all such cases have chromosomal abnormalities hence we suggest that this condition is associated with genetic heterogeneity and variable clinical manifestations.
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documentation of anomalies not previously described in Fryns Syndrome
American Journal of Medical Genetics Part A, 2003Co-Authors: Sonya Rae Arnold, Diane Debichspicer D, John M Opitz, Enid GilbertbarnessAbstract:We report on a case of Fryns Syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns Syndrome.
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documentation of anomalies not previously described in Fryns Syndrome commentary
American Journal of Medical Genetics, 2003Co-Authors: Sonya Rae Arnold, Diane Debichspicer D, John M Opitz, Enid Gilbertbarness, Bryan D HallAbstract:We report on a case of Fryns Syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns Syndrome.
