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cleft palate and learning disability

Erik Berg, Øystein A Haaland, Kristin B Feragen, Charles Filip, Hallvard A Vindenes, Dag Moster, Rolv T Lie, Åse Sivertsen
Importance: Parents regularly express concern about long-term health outcomes for children who are born with an oral cleft. Objective: To assess whether oral clefts affect the health and ability to work of young adults. Design, Setting, and Participants: A population-based cohort study was conducted on all individuals born in Norway between calendar years 1967 and 1992 (n = 1 490 401). All patients treated for clefts in Norway during the study period were invited to participate (n = 2860)...
September 26, 2016: JAMA Pediatrics
Emanuela Ponzi, Alessia Asaro, Daniela Orteschi, Maurizio Genuardi, Marcella Zollino, Fiorella Gurrieri
We report on a 3-year-old male with intellectual disability (ID), characteristic facial features, polydactyly and epilepsy carrying a paternally inherited 3q28 deletion of 1.9 Mb. The father, carrying the same deletion, presents with cleft palate, nail dystrophy and learning difficulties. The deleted region in this family is one of the smallest so far reported among genomic deletions affecting 3q27-3q28 for which some phenotypic descriptions are available. In particular, since the phenotype of our proband is strikingly similar to that previously described in a patient with a 9...
August 2015: European Journal of Medical Genetics
Emily E Hopkins, Meredith L Wallace, Yvette P Conley, Mary L Marazita
PURPOSE: Attention-deficit hyperactivity disorder (ADHD) is a common childhood neurobehavioral disorder characterized by inattention, poor impulse control, and motor restlessness. Risk factors include familial stressors, anxiety disorders, learning disabilities, abnormal brain development, heritability, and dopamine polymorphisms. Children with an orofacial clefting (OFC) history are at increased risk of familial stressors, anxiety disorders, learning disabilities, and abnormal brain development...
May 2015: Biological Research for Nursing
Társis P Vieira, Fabíola P Monteiro, Ilária C Sgardioli, Josiane Souza, Agnes C Fett-Conte, Isabella L Monlleó, Marshall B Fontes, Têmis M Félix, Gabriela F Leal, Erlane Marques Ribeiro, Vera L Gil-da-Silva-Lopes
OBJECTIVES: The aim of this study was to describe clinical features in subjects with palatal abnormalities and to assess the distribution of these features among those with and without 22q11.2 deletion. DESIGN: Descriptive cohort. PATIENTS: One hundred patients with palatal abnormalities and suspicion of 22q11.2 DS were included. METHODS: All patients were evaluated by a clinical geneticist, who completed a standardized clinical protocol...
July 2015: Cleft Palate-craniofacial Journal
Stefan Johansson, Siren Berland, Gyri Aasland Gradek, Ernie Bongers, Nicole de Leeuw, Rolph Pfundt, Madeleine Fannemel, Olaug Rødningen, Atle Brendehaug, Bjørn Ivar Haukanes, Randi Hovland, Gunnar Helland, Gunnar Houge
MEIS2 is a homeodomain-containing transcription factor of the TALE superfamily that has been proven important for development. We confirm and extend a recent single clinical report stating that deletions in MEIS2 can cause cleft palate [Crowley et al. (2010); Am J Med Genet 152A:1326-1327]. Here we report on five additional patients with 15q14 deletions of sizes 0.6, 0.6, 1.0, 1.9, and 4.8 Mb, respectively, all involving MEIS2. In addition, we present a family with four affected individuals and an intragenic 58 kb direct duplication disrupting MEIS2...
July 2014: American Journal of Medical Genetics. Part A
John C K Barber, Jill A Rosenfeld, Nicola Foulds, Sophie Laird, Mark S Bateman, N Simon Thomas, Samantha Baker, Viv K Maloney, Arayamparambil Anilkumar, Wendy E Smith, Valerie Banks, Sara Ellingwood, Yara Kharbutli, Lakshmi Mehta, Keith A Eddleman, Michael Marble, Regina Zambrano, John A Crolla, Allen N Lamb
The 8p23.1 duplication syndrome is a relatively rare genomic condition that has been confirmed with molecular cytogenetic methods in only 11 probands and five family members. Here, we describe another prenatal and five postnatal patients with de novo 8p23.1 duplications analyzed with oligonucleotide array comparative genomic hybridization (oaCGH). Of the common features, mild or moderate developmental delays and/or learning difficulties have been found in 11/12 postnatal probands, a variable degree of mild dysmorphism in 8/12 and congenital heart disease (CHD) in 4/5 prenatal and 3/12 postnatal probands...
March 2013: American Journal of Medical Genetics. Part A
Aleksandra Jezela-Stanek, Marzena Kucharczyk, Magdalena Pelc, Anna Gutkowska, Małgorzata Krajewska-Walasek
We report on a 9-year-old girl with subtelomeric 20p microdeletion. She was referred for genetic counseling because of learning difficulties/school problems. During the evaluation short stature, hypoplastic fingernails, submucous cleft palate with cleft uvula, flat feet, and frequent upper respiratory infections, as well as the large fontanelle after birth were observed. No facial dysmorphic features specific for chromosomal aberrations were present. The diagnosis of deletion of 20p13 was established by MLPA, and delineated by arrayCGH...
January 2013: American Journal of Medical Genetics. Part A
Christina R Fagerberg, Jesper Graakjaer, Ulrike D Heinl, Lilian B Ousager, Inken Dreyer, Maria Kirchhoff, Anders A Rasmussen, Charlotte K Lautrup, Niels Birkebaek, Keld Sorensen
22q11.2 distal deletion syndrome is distinct from the common 22q11.2 deletion syndrome and caused by microdeletions localized adjacent to the common 22q11 deletion at its telomeric end. Most distal deletions of 22q11 extend from LCR22-4 to an LCR in the range LCR22-5 to LCR22-8. We present three patients with 22q11 distal deletions, of whom two have complex congenital heart malformation, thus broadening the phenotypic spectrum. We compare cardiac malformations reported in 22q11 distal deletion to those reported in the common 22q11 deletion syndrome...
February 2013: European Journal of Medical Genetics
Qihong Zhang, Seongjin Seo, Kevin Bugge, Edwin M Stone, Val C Sheffield
There are numerous genes for which loss-of-function mutations do not produce apparent phenotypes even though statistically significant quantitative changes to biological pathways are observed. To evaluate the biological meaning of small effects is challenging. Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by obesity, retinopathy, polydactyly, renal malformations, learning disabilities and hypogenitalism, as well as secondary phenotypes including diabetes and hypertension...
May 1, 2012: Human Molecular Genetics
Monica Pânzaru, Cristina Rusu, M Voloşciuc, Elena Braha, Lăcrămioara Butnariu, I Ivanov, Mihaela Grămescu, Roxana Popescu, Lavinia Caba, Adriana Sireteanu, M Macovei, M Covic, E V Gorduza
UNLABELLED: Velo-Cardio-Facial Syndrome (VCFS) is characterized by congenital heart defects (CHD), palatal abnormalities, facial dysmorphism, neonatal hypocalcemia, immune deficit, speech and learning disabilities. SVCF is caused by microdeletion 22q11.2. Microdeletion is detected by fluorescence in situ hybridization (FISH). The highly variable phenotype makes diagnosis and selection for FISH more difficult. AIM: To retrospectively analyze and compare the phenotype of children with a clinical diagnosis of VCFS with/without 22q11 deletion; to verify the validity of literature guidelines and to describe combinations of clinical features that should lead to molecular analysis...
July 2011: Revista Medico-chirurgicală̆ a Societă̆ţ̜ii de Medici ş̧i Naturaliş̧ti Din Iaş̧i
Lynn C Richman, Thomasin E McCoy, Amy L Conrad, Peg C Nopoulos
This article reviews behavioral, neuropsychological, and academic outcomes of individuals with cleft across three age levels: (1) infancy/early development, (2) school age, and (3) adolescence/young adulthood. The review points out that attachment, neurocognitive functioning, academic performance/learning, and adjustment outcomes are the result of a complex interaction between biological and environmental factors and vary with developmental level, sex, and craniofacial anomaly diagnosis. The degree to which associated genetic or neurodevelopmental conditions may explain inconsistent findings is unknown and suggests the need for caution in generalizing from group data on cleft...
July 2012: Cleft Palate-craniofacial Journal
N Tyshchenko, T M Neuhann, E Gerlach, G Hahn, K Heisch, A Rump, E Schrock, S Tinschert, K Hackmann
We report on three patients from two families with apparently a novel clinical entity. The main features of which include unusual craniofacial dysmorphism with ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, low-set, posteriorly rotated small ears, as well as conductive hearing loss, cleft palate, heart defect, and mild developmental delay. We suggest that this entity is an autosomal dominant disorder given the occurrence in a mother and daughter as well as in an unrelated boy...
September 2011: American Journal of Medical Genetics. Part A
Se-Hyung Son, Yoon Joo Kim, Eun Sun Kim, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi
McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum...
May 2011: Korean Journal of Pediatrics
Denice Michelle Edeal, Christina Elke Gildersleeve-Neumann
PURPOSE: This study explores the importance of production frequency during speech therapy to determine whether more practice of speech targets leads to increased performance within a treatment session, as well as to motor learning, in the form of generalization to untrained words. METHOD: Two children with childhood apraxia of speech were treated with an alternating treatment AB design, with production frequency differing in the 2 treatments. The higher production frequency treatment required 100+ productions in 15 min, while the moderate-frequency treatment required 30-40 productions in the same time period...
May 2011: American Journal of Speech-language Pathology
Francine Pinheiro Favaro, Roseli Maria Zechi-Ceide, Camila Wenceslau Alvarez, Luciana P Maximino, Luis Fernando B B Antunes, Antonio Richieri-Costa, Maria Leine Guion-Almeida
We reported on 16 new Brazilian patients and review findings in 12 previously reported cases (25 apparently unrelated Brazilian families) from Hospital of Rehabilitation of Craniofacial Anomalies, presenting with Richieri-Costa-Pereira syndrome. All patients display a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet...
February 2011: American Journal of Medical Genetics. Part A
Caroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, Elyes Chabchoub, Victor Hernandez-Hernandez, Hanan Shamseldin, Joanna Kenny, Aoife Waters, Dagan Jenkins, Ali Al Kaissi, Gabriela F Leal, Bruno Dallapiccola, Franco Carnevale, Maria Bitner-Glindzicz, Melissa Lees, Raoul Hennekam, Philip Stanier, Alan J Burns, Hilde Peeters, Fowzan S Alkuraya, Philip L Beales
3MC syndrome has been proposed as a unifying term encompassing the overlapping Carnevale, Mingarelli, Malpuech and Michels syndromes. These rare autosomal recessive disorders exhibit a spectrum of developmental features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. Here we studied 11 families with 3MC syndrome and identified two mutated genes, COLEC11 and MASP1, both of which encode proteins in the lectin complement pathway (collectin kidney 1 (CL-K1) and MASP-1 and MASP-3, respectively)...
March 2011: Nature Genetics
B Perdu, P Lakeman, G Mortier, R Koenig, A M A Lachmeijer, W Van Hul
Osteopathia striata with cranial sclerosis (OMIM ##300373) is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae. In males this entity is usually associated with foetal or neonatal lethality, because of severe heart defects and/or gastrointestinal malformations, and is often accompanied by bilateral fibula aplasia...
October 2011: Clinical Genetics
Brent R Collett, Brian Leroux, Matthew L Speltz
OBJECTIVE: To test the hypothesis that children with orofacial clefts score lower than controls on measures of language and reading and to examine predictors of these outcomes. DESIGN: Longitudinal study tracking the development of children with and without orofacial clefts from infancy through age 7 years. SUBJECTS: Children with isolated cleft lip and palate (n = 29) and cleft palate only (n = 28) were recruited from the craniofacial program in an urban medical center...
May 2010: Cleft Palate-craniofacial Journal
Melissa T Carter, Stephanie A St Pierre, Elaine H Zackai, Beverly S Emanuel, Kym M Boycott
Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is the most common recurrent reciprocal translocation in humans. Little has been published on the clinical features of this syndrome since the 1980s and information on natural history is limited...
August 2009: American Journal of Medical Genetics. Part A
Jill Urquhart, Graeme C M Black, Jill Clayton-Smith
We report a 4.5 Mb deletion of 2q33.1 in an individual with developmental delay and cleft palate. There have been various previous reports of deletions of 2q3, all with varying breakpoints and all larger than the current case. Whilst there is some variation in the phenotypes of patients with 2q3 deletions all share a commonly deleted region within 2q33.1 which includes SATB2, a gene previously shown to be associated with cleft palate. The phenotypic features of our patient are milder than those reported so far...
November 2009: European Journal of Medical Genetics
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