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cleft palate and intellectual disability

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https://www.readbyqxmd.com/read/29666339/phenotypic-characterization-of-derivative-22-syndrome-case-series-and-review
#1
Deepti Saxena, Priyanka Srivastava, Moni Tuteja, Kausik Mandal, Shubha R Phadke
Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males. In 99% of the cases, one of the parents is a carrier of balanced translocation between chromosomes 11 and 22. It occurs due to malsegregation of the gametes with 3:1 segregation. In this case series, we describe four patients with diverse manifestations of this condition...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29483804/two-patients-with-apert-syndrome-with-different-mutations-the-importance-of-early-diagnosis
#2
Esra Işık, Tahir Atik, Hüseyin Onay, Ferda Özkınay
Apert syndrome is an autosomal dominant craniosynostosis syndrome accompanied by limb anomalies. The fibroblast growth factor receptor 2 ( FGFR2 ) gene is responsible for the disease and two different heterozygous mutations, p.Pro253Arg and p.Ser252Trp, have been defined as responsible in the majority of cases of Apert syndrome. In this case report, two patients with Apert syndrome with two different FGFR2 gene mutations are presented. Case-1, a 4-month-old boy with craniosynostosis and syndactyly was referred to pediatric genetic clinic...
December 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29456483/two-novel-pathogenic-mid1-variants-and-genotype-phenotype-correlation-reanalysis-in-x-linked-opitz-g-bbb-syndrome
#3
Nuno Maia, Maria J Nabais Sá, Nataliya Tkachenko, Gabriela Soares, Isabel Marques, Bárbara Rodrigues, Ana M Fortuna, Rosário Santos, Arjan P M de Brouwer, Paula Jorge
X-linked Opitz G/BBB syndrome (XLOS) is a multisystemic congenital condition, caused by mutations in the midline-1 gene ( MID1 ), characterized by a large inter- and intrafamilial phenotypic variability and often associated with intellectual disability (ID). We report clinical, genetic, and molecular findings in 4 patients with typical XLOS dysmorphic features belonging to 2 unrelated families. Two novel pathogenic loss-of-function MID1 variants, a maternally inherited c.1656del and a de novo c.1215_1228dup, were identified...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29437512/observation-of-cleft-palate-in-an-individual-with-sox11-mutation-indication-of-a-role-for-sox11-in-human-palatogenesis
#4
Umair Khan, Ddd Study, Eleanor Baker, Jill Clayton-Smith
OBJECTIVE: Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an intellectual disability syndrome with associated features of nail hypoplasia, microcephaly, and characteristic facial features including a wide mouth and prominent lips. PARTICIPANT: We describe a further patient with a mutation in SOX11 and phenotype resembling mild Coffin-Siris syndrome. RESULTS: This boy had a cleft palate, a feature not previously seen in other patients with SOX11 mutations...
March 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29421787/a-de-novo-1q22q23-1-interstitial-microdeletion-in-a-girl-with-intellectual-disability-and-multiple-congenital-anomalies-including-congenital-heart-defect
#5
Beata Aleksiūnienė, Egle Preiksaitiene, Aušra Morkūnienė, Laima Ambrozaitytė, Algirdas Utkus
Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23...
February 9, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29410513/a-novel-homozygous-dph1-mutation-causes-intellectual-disability-and-unique-craniofacial-features
#6
Futoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, Mansoor Salehi, Majid Hosseinzadeh, Nobuhiko Okamoto, Takeshi Mizuguchi, Mitsuko Nakashima, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). Only two missense DPH1 mutations have been reported to date. Here, we describe a consanguineous family with two siblings both showing developmental delay, agenesis of the corpus callosum, dysmorphic facial features, sparse hair, brachycephaly, and short stature. By wholeexome sequencing, a homozygous frameshift mutation in DPH1 (c...
February 6, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29407414/biallelic-intragenic-deletion-in-masp1-in-an-adult-female-with-3mc-syndrome
#7
Luitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, Steffen Uebe, Arif B Ekici, Christian T Thiel, André Reis, Christiane Zweier
3MC syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism and multiple anomalies. It is caused by biallelic mutations in one of three genes, MASP1, COLEC11 and COLEC10, all encoding factors of the lectin complement pathway. In MASP1, either truncating mutations or missense variants in exon 12 encoding the C-terminal serine protease domain specific for isoform MASP-3 are causative. By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of 3MC syndrome and hearing loss, but without the main feature cleft lip/palate, and without intellectual disability, or short stature...
January 30, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29326522/fragile-x-syndrome-a-rare-case-report-with-unusual-oral-features
#8
Prayas Ray, Arpanna Singh, Jayanta Kumar Dash, Prasanna Kumar Sahoo, Jitendra Kumar Dash
Fragile X syndrome (FXS) is a rare variant of special health-care need demonstrating delayed developmental milestones and associated with intellectual and emotional disabilities ranging from learning problem to mental retardation. The syndrome is usually not diagnosed until 8-9 years of age since the clinical manifestations of the syndrome are greatly attenuated in childhood. The physical characteristics such as facial features, hyperactivity, attention deficit, autistic behavior, and macroorchidism are quite evident in younger age group...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29298444/human-malformation-syndromes-of-defective-gli-opposite-phenotypes-of-2q14-2-gli2-and-7p14-2-gli3-microdeletions-and-a-glia-r-balance-model
#9
Yo Niida, Mika Inoue, Mamoru Ozaki, Etsuko Takase
GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling pathway. GLI regulates gene expression and repression at various phases of embryonic morphogenesis. In humans, 4 GLI genes are known, and GLI2 (2q14.2) and GLI3 (7p14.1) mutations cause different syndromes. Here, we present 2 distinctive cases with a chromosomal microdeletion in one of these genes. Patient 1 is a 14-year-old girl with Culler-Jones syndrome. She manifested short stature, cleft palate, and mild intellectual/social disability caused by a 6...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29024830/new-ocular-finding-in-baraitser-winter-syndrome-bws
#10
Natalie Rall, Alejandro Leon, Ricardo Gomez, Jessica Daroca, Yves Lacassie
Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness, microcephaly, lissencephaly, and CNS findings (Baraitser and Winter 1988; Ganesh et al., 2005; Henedy et al., 2010; Verloes et al., 2015). The syndrome is due to pathogenic variants on either ACTB or ACTG1 genes (Di Donato et al., 2014; Rivière et al...
January 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28794913/wolf-hirschhorn-syndrome-clinical-and-genetic-data-from-a-first-case-diagnosed-in-central-africa
#11
Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Toni Lubala Kasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe, Koenraad Devriendt
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28687524/pierpont-syndrome-associated-with-the-p-tyr446cys-missense-mutation-in-tbl1xr1
#12
Anne Slavotinek, Heather Pua, Ugur Hodoglugil, Jude Abadie, Joseph Shieh, Jessica Van Ziffle, Mark Kvale, Hane Lee, Pui-Yan Kwok, Neil Risch, Marta Sabbadini
We present a 7-year old male with severe delays, hypotonia and dysmorphic features who had striking, deep palmar and plantar creases and pillowing of the soft tissues of the palms and soles. His facial features included a high anterior hairline, small eyes with narrowed palpebral fissures, a bulbous nasal tip with a short columella, and a large mouth with a thin upper vermilion, and small chin. He had a submucous cleft palate, bilateral cryptorchidism and hydronephrosis. Cranial imaging demonstrated an Arnold Chiari malformation that was also present in his maternal uncle by report...
October 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28498505/autosomal-dominant-frontometaphyseal-dysplasia-delineation-of-the-clinical-phenotype
#13
Emma M Wade, Zandra A Jenkins, Philip B Daniel, Tim Morgan, Marie C Addor, Lesley C Adés, Debora Bertola, Axel Bohring, Erin Carter, Tae-Joon Cho, Christa M de Geus, Hans-Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C M Hennekam, Chong A Kim, Deborah Krakow, Eva Morava, Teresa Neuhann, David Sillence, Andrea Superti-Furga, Hermine E Veenstra-Knol, Dagmar Wieczorek, Louise C Wilson, David M Markie, Stephen P Robertson
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who lack a FLNA mutation. We previously also described a patient with a de novo variant in TAB2, which we hypothesized was causative of another form of AD-FMD. In this study, a cohort of 20 individuals with AD-FMD is clinically evaluated...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28390064/pgap3-related-hyperphosphatasia-with-mental-retardation-syndrome-report-of-10-new-patients-and-a-homozygous-founder-mutation
#14
M S Abdel-Hamid, M Y Issa, G A Otaify, S F Abdel-Ghafar, H M Elbendary, M S Zaki
BACKGROUND: Hyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol pathway, including PGAP3. MATERIALS AND METHODS: We describe 10 patients from 8 Egyptian families presenting with developmental delay, severe intellectual disability, distinct facial dysmorphism and increased alkaline phosphatase. Sanger sequencing of PGAP3 was performed. RESULTS: Eight patients had cleft palate, 4 had postnatal microcephaly and 5 had seizures...
January 2018: Clinical Genetics
https://www.readbyqxmd.com/read/28319315/maxillofacial-features-and-systemic-malformations-in-expanded-spectrum-hemifacial-microsomia
#15
Noah Cohen, Erica Cohen, Alberto Gaiero, Silvia Zecca, Graziella Fichera, Federica Baldi, Joseph Felix Giordanetto, Jacques Marie Mercier, Amnon Cohen
Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28229453/chondrodysplasia-with-multiple-dislocations-comprehensive-study-of-a-series-of-30-cases
#16
E Ranza, C Huber, N Levin, G Baujat, C Bole-Feysot, P Nitschke, C Masson, Y Alanay, L Al-Gazali, P Bitoun, O Boute, P Campeau, C Coubes, M McEntagart, N Elcioglu, L Faivre, A Gezdirici, D Johnson, E Mihci, B G Nur, L Perrin, C Quelin, P Terhal, B Tuysuz, V Cormier-Daire
The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual disability are also often part of the phenotype. In addition, several conditions with overlapping features are related to this group and broaden the spectrum. The majority of these disorders have been linked to pathogenic variants in genes encoding proteins implicated in the synthesis or sulfation of proteoglycans (PG)...
June 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28151491/clinical-and-molecular-consequences-of-disease-associated-de-novo-mutations-in-satb2
#17
Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, M Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E Hurles, Helen V Firth, F Lucy Raymond, Usha Kini, Christoffer Nellåker, Ddd Study, David R FitzPatrick
PURPOSE: To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability. METHODS: Twenty previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants) were studied. Fibroblasts were used to measure mutant protein production. Subcellular localization and mobility of wild-type and mutant SATB2 were assessed using fluorescently tagged protein...
August 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#18
REVIEW
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#19
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
March 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28003643/kaufman-oculo-cerebro-facial-syndrome-in-a-child-with-small-and-absent-terminal-phalanges-and-absent-nails
#20
Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome...
April 2017: Journal of Human Genetics
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