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  1. Article ; Online: Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?

    Belligni, Elga F / Dokal, Inderjeet / Hennekam, Raoul C M

    European journal of medical genetics

    2011  Volume 54, Issue 3, Page(s) 231–235

    Abstract: Naegeli(-Franceschetti-Jadassohn) syndrome and Dermatopathia Pigmentosa Reticularis are allelic disorders, both characterized by a congenital generalized reticulate hyperpigmentation, palmoplantar hyperkeratosis and other ectodermal symptoms. The ... ...

    Abstract Naegeli(-Franceschetti-Jadassohn) syndrome and Dermatopathia Pigmentosa Reticularis are allelic disorders, both characterized by a congenital generalized reticulate hyperpigmentation, palmoplantar hyperkeratosis and other ectodermal symptoms. The disorders differ in their primary pigmentation localization and hair and dental manifestations. They resemble Dyskeratosis Congenita and Poikiloderma Clericuzio type in many of the skin changes, but especially the presence of leukoplakia and bone marrow disfunctioning in the first, and of telangiectasias, generalized hyperkeratosis of palms and soles, and nail pachyonychia in the latter are distinguishing features. Here we present two unrelated patients who have prenatal and postnatal growth retardation, microcephaly, developmental delay, generalized reticulate hyperpigmentation, hypohidrosis, absent fingertip prints, and absent palmoplantar hyperkeratosis. The patients differ in nail manifestations and hair colour. No Keratin14 mutation or genomic imbalance at CGHarray could be found in either of them. Although their phenotype overlaps with Naegeli syndrome, dermatopathia pigmentosa reticularis, dyskeratosis congenita and poikiloderma Clericuzio type, the differences in ectodermal manifestations, immunological functioning, growth pattern and cognition may indicate the presence of a separate entity.
    MeSH term(s) Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Child, Preschool ; Developmental Disabilities/pathology ; Diagnosis, Differential ; Dyskeratosis Congenita/pathology ; Ectodermal Dysplasia/pathology ; Fetal Growth Retardation/pathology ; Growth Disorders/pathology ; Humans ; Hypohidrosis/pathology ; Infant ; Keratoderma, Palmoplantar/pathology ; Male ; Microcephaly/pathology ; Pigmentation Disorders/pathology ; Skin Abnormalities/pathology ; Syndrome
    Language English
    Publishing date 2011-05
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2011.01.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems.

    Belligni, Elga F / Hennekam, Raoul C M

    European journal of medical genetics

    2010  Volume 53, Issue 4, Page(s) 192–196

    Abstract: We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We ... ...

    Abstract We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in addition a partial cutaneous syndactyly between the third and fourth fingers, an increased distance between second and third finger, and a decreased smell. We have not been unable to find other patients described in literature with the same combination of features, and suggest this to represent a hitherto unrecognizable entity. Pattern of inheritance is likely to be autosomal dominant.
    MeSH term(s) Adult ; Blepharoptosis/genetics ; Blepharoptosis/pathology ; Child ; Child, Preschool ; Ear/abnormalities ; Ear/pathology ; Family ; Female ; Genetic Predisposition to Disease ; Hand Deformities/genetics ; Hand Deformities/pathology ; Humans ; Infant, Newborn ; Learning Disorders/genetics ; Learning Disorders/pathology ; Male ; Middle Aged ; Pedigree ; Prognosis ; Speech Disorders/genetics ; Speech Disorders/pathology
    Language English
    Publishing date 2010-07
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2010.03.009
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  3. Article ; Online: MECP2 duplication in a patient with congenital central hypoventilation.

    Belligni, Elga F / Palmer, Rodger W / Hennekam, Raoul C M

    American journal of medical genetics. Part A

    2010  Volume 152A, Issue 6, Page(s) 1591–1593

    MeSH term(s) Child, Preschool ; Chromosomes, Human, X/genetics ; Gene Duplication ; Humans ; Hypoventilation/congenital ; Hypoventilation/diagnosis ; Hypoventilation/genetics ; Male ; Methyl-CpG-Binding Protein 2/genetics
    Chemical Substances MECP2 protein, human ; Methyl-CpG-Binding Protein 2
    Language English
    Publishing date 2010-05-26
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.33311
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  4. Article ; Online: Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

    Faravelli Francesca / Pierluigi Mauro / Messa Jole / Molinatto Cristina / Biamino Elisa / Belligni Elga F / Zuffardi Orsetta / Ferrero Giovanni B / Silengo Margherita

    The Italian Journal of Pediatrics, Vol 35, Iss 1, p

    2009  Volume 9

    Abstract: Abstract Background Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have ... ...

    Abstract Abstract Background Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been found in roughly 5 to 7% of all cases. Methods We performed a subtelomeric FISH analysis on 76 unrelated children with normal standard karyotype ascertained by developmental delay or intellectual disability, associated with congenital malformations, and/or facial dysmorphisms. Results Ten cryptic chromosomal anomalies have been identified in the whole cohort (13,16%), 8 in the group of patients characterized by developmental delay or intellectual disability associated with congenital malformations and facial dysmorphisms, 2 in patients with developmental delay or intellectual disability and facial dysmorphisms only. Conclusion We demonstrate that a careful clinical examination is a very useful tool for pre-selection of patients for genomic analysis, clearly enhancing the chromosomal anomaly detection rate. Clinical features of most of these patients are consistent with the corresponding emerging chromosome phenotypes, pointing out these new clinical syndromes associated with specific genomic imbalances.
    Keywords Pediatrics ; RJ1-570 ; Medicine ; R ; DOAJ:Pediatrics ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
    Subject code 610
    Language English
    Publishing date 2009-04-01T00:00:00Z
    Publisher BioMed Central
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article: Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.

    Maini, Ilenia / Ivanovski, Ivan / Iodice, Alessandro / Rosato, Simonetta / Pollazzon, Marzia / Mussini, Manuela / Belligni, Elga F / Coutton, Charles / Marinelli, Maria / Barbieri, Veronica / Napoli, Manuela / Pascarella, Rosario / Sartori, Chiara / Madia, Francesca / Fusco, Carlo / Franchi, Fabrizia / Street, Maria E / Garavelli, Livia

    Molecular syndromology

    2016  Volume 7, Issue 6, Page(s) 337–343

    Abstract: To date, 5 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability was reported as the core feature, together with minor facial dysmorphisms and obesity, but a characteristic phenotype for 17p13.1 ... ...

    Abstract To date, 5 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability was reported as the core feature, together with minor facial dysmorphisms and obesity, but a characteristic phenotype for 17p13.1 microduplication has not been delineated. Here, we describe a patient with a 1.56-Mb de novo duplication in 17p13.1, affected by mild intellectual disability, facial dysmorphisms, obesity, and diabetes. By comparing the different phenotypes of currently described cases, we delineated the main clinical features of 17p13.1 microduplication syndrome. All patients described to date had variable facial dysmorphisms; therefore, it was difficult to define a common facial gestalt. Furthermore, we stress endocrinological abnormalities as important features and the need to monitor these over time.
    Language English
    Publishing date 2016-10-14
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2546218-0
    ISSN 1661-8777 ; 1661-8769
    ISSN (online) 1661-8777
    ISSN 1661-8769
    DOI 10.1159/000450718
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  6. Article ; Online: Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

    Belligni, Elga F / Biamino, Elisa / Molinatto, Cristina / Messa, Jole / Pierluigi, Mauro / Faravelli, Francesca / Zuffardi, Orsetta / Ferrero, Giovanni B / Silengo, Margherita Cirillo

    Italian journal of pediatrics

    2009  Volume 35, Issue 1, Page(s) 9

    Abstract: Background: Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been ... ...

    Abstract Background: Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been found in roughly 5 to 7% of all cases.
    Methods: We performed a subtelomeric FISH analysis on 76 unrelated children with normal standard karyotype ascertained by developmental delay or intellectual disability, associated with congenital malformations, and/or facial dysmorphisms.
    Results: Ten cryptic chromosomal anomalies have been identified in the whole cohort (13,16%), 8 in the group of patients characterized by developmental delay or intellectual disability associated with congenital malformations and facial dysmorphisms, 2 in patients with developmental delay or intellectual disability and facial dysmorphisms only.
    Conclusion: We demonstrate that a careful clinical examination is a very useful tool for pre-selection of patients for genomic analysis, clearly enhancing the chromosomal anomaly detection rate. Clinical features of most of these patients are consistent with the corresponding emerging chromosome phenotypes, pointing out these new clinical syndromes associated with specific genomic imbalances.
    Language English
    Publishing date 2009-04-27
    Publishing country England
    Document type Journal Article
    ZDB-ID 2088556-8
    ISSN 1824-7288 ; 1720-8424
    ISSN (online) 1824-7288
    ISSN 1720-8424
    DOI 10.1186/1824-7288-35-9
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  7. Article: Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

    Maini, Ilenia / Ivanovski, Ivan / Iodice, Alessandro / Rosato, Simonetta / Pollazzon, Marzia / Mussini, Manuela / Belligni, Elga F. / Coutton, Charles / Marinelli, Maria / Barbieri, Veronica / Napoli, Manuela / Pascarella, Rosario / Sartori, Chiara / Madia, Francesca / Fusco, Carlo / Franchi, Fabrizia / Street, Maria E. / Garavelli, Livia

    Molecular Syndromology

    2016  Volume 7, Issue 6, Page(s) 337–343

    Abstract: To date, 5 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability was reported as the core feature, together with minor facial dysmorphisms and obesity, but a characteristic phenotype for 17p13.1 ... ...

    Institution Clinical Genetics Unit Paediatric Neuropsychiatry Unit Medical Genetics Laboratory, Department of Obstetrics and Paediatrics Neuroradiology Unit, Department of Diagnostic Imaging Division of Paediatric Endocrinology and Diabetology, Department of Obstetrics and Paediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia Scuola di Specializzazione in Neuropsichiatria Infantile, Università degli Studi di Parma, Parma Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena Department of Paediatrics, University of Turin, Turin, and Laboratory of Neurogenetics and Neuroscience, Department of Neuroscience, Istituto ‘G. Gaslini', Genova, Italy Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, Grenoble, France
    Abstract To date, 5 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability was reported as the core feature, together with minor facial dysmorphisms and obesity, but a characteristic phenotype for 17p13.1 microduplication has not been delineated. Here, we describe a patient with a 1.56-Mb de novo duplication in 17p13.1, affected by mild intellectual disability, facial dysmorphisms, obesity, and diabetes. By comparing the different phenotypes of currently described cases, we delineated the main clinical features of 17p13.1 microduplication syndrome. All patients described to date had variable facial dysmorphisms; therefore, it was difficult to define a common facial gestalt. Furthermore, we stress endocrinological abnormalities as important features and the need to monitor these over time.
    Keywords Obesity ; Microduplication syndrome 17p13.1 ; Diabetes ; Endocrine disorders ; Intellectual disability
    Language English
    Publishing date 2016-10-14
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Novel Insights from Clinical Practice
    ZDB-ID 2546218-0
    ISSN 1661-8777 ; 1661-8769
    ISSN (online) 1661-8777
    ISSN 1661-8769
    DOI 10.1159/000450718
    Database Karger publisher's database

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  8. Article ; Online: Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

    Palomares, María / Delicado, Alicia / Mansilla, Elena / de Torres, María Luisa / Vallespín, Elena / Fernandez, Luis / Martinez-Glez, Victor / García-Miñaur, Sixto / Nevado, Julián / Simarro, Fernando Santos / Ruiz-Perez, Victor L / Lynch, Sally Ann / Sharkey, Freddie H / Thuresson, Ann-Charlotte / Annerén, Göran / Belligni, Elga F / Martínez-Fernández, María Luisa / Bermejo, Eva / Nowakowska, Beata /
    Kutkowska-Kazmierczak, Anna / Bocian, Ewa / Obersztyn, Ewa / Martínez-Frías, María Luisa / Hennekam, Raoul C M / Lapunzina, Pablo

    American journal of human genetics

    2011  Volume 89, Issue 2, Page(s) 295–301

    Abstract: We report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66-13.55 Mb in size). The deletion was familial in one and simplex in seven individuals. The phenotype was remarkably similar and ... ...

    Abstract We report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66-13.55 Mb in size). The deletion was familial in one and simplex in seven individuals. The phenotype was remarkably similar and consisted of a round face with full cheeks, a high forehead, ptosis, cornea opacities, an underdeveloped alae, a short philtrum, a cupid's bow of the upper lip, down-turned corners of the mouth, micrognathia, low-set and prominent ears, and mild finger and toe anomalies (camptodactyly, syndactyly, and broadening of the first rays). Intellectual disability, hypotonia, decreased balance, sensorineural hearing loss, and unusual behavior were frequently observed. A high-resolution oligonucleotide array showed different proximal and distal breakpoints in all of the individuals. Sequencing studies in three of the individuals revealed that proximal and distal breakpoints were located in unique sequences with no apparent homology. The smallest region of overlap was a 539.7 kb interval encompassing three genes: a Zinc Finger Homeobox 4 (ZFHX4), one microRNA of unknown function, and one nonfunctional pseudogen. ZFHX4 encodes a transcription factor expressed in the adult human brain, skeletal muscle, and liver. It has been suggested as a candidate gene for congenital bilateral isolated ptosis. Our results suggest that the 8q21.11 submicroscopic deletion represents a clinically recognizable entity and that a haploinsufficient gene or genes within the minimal deletion region could underlie this syndrome.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 8/genetics ; Comparative Genomic Hybridization ; Facies ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/genetics ; Male ; Phenotype ; Reproducibility of Results ; Syndrome
    Language English
    Publishing date 2011-07-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2011.06.012
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