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cleft palate and hearing impairment

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...
January 5, 2017: Molecular Medicine Reports
Sibylle Sabrautzki, Michael A Sandholzer, Bettina Lorenz-Depiereux, Robert Brommage, Gerhard Przemeck, Ingrid L Vargas Panesso, Alexandra Vernaleken, Lillian Garrett, Katharina Baron, Ali O Yildirim, Jan Rozman, Birgit Rathkolb, Christine Gau, Wolfgang Hans, Sabine M Hoelter, Susan Marschall, Claudia Stoeger, Lore Becker, Helmut Fuchs, Valerie Gailus-Durner, Martin Klingenspor, Thomas Klopstock, Christoph Lengger, Leuchtenberger Stefanie, Eckhard Wolf, Tim M Strom, Wolfgang Wurst, Martin Hrabě de Angelis
Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene (Ednra c.386A>T, p.Tyr129Phe) derived by an ENU mutagenesis program. The identical amino acid substitution was reported recently as disease causing in three individuals with the mandibulofacial dysostosis with alopecia (MFDA, OMIM 616367) syndrome...
December 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
Meredith J Cler, Yu-An S Lien, Maia N Braden, Talia Mittelman, Kerri Downing, Cara E Stepp
Purpose: This article describes the development and initial validation of an objective measure of nasal air emission (NAE) using nasal accelerometry. Method: Nasal acceleration and nasal airflow signals were simultaneously recorded while an expert speech language pathologist modeled NAEs at a variety of severity levels. In addition, microphone and nasal accelerometer signals were collected during the production of /pɑpɑpɑpɑ/ speech utterances by 25 children with and without cleft palate...
September 9, 2016: Journal of Speech, Language, and Hearing Research: JSLHR
Francesca Piceci, Silvia Morlino, Marco Castori, Elsa Buffone, Alessandro De Luca, Paola Grammatico, Valentina Guida
Microtia is a congenital defect affecting external ears, which appear smaller and sometimes malformed. Here we describe a five-generation family with isolated bilateral microtia segregating as an autosomal dominant trait. Similar features had been previously observed in an autosomal dominant family with non-syndromic microtia and hearing loss segregating with a HOXA2 nonsense variant. HOXA2 biallelic mutations were also described in an inbreed family with autosomal recessive microtia, hearing impairment and incomplete cleft palate...
August 9, 2016: Clinical Genetics
Xiaoran Ma, Yue Wing Li, Lian Ma, Bradley McPherson
OBJECTIVES: This study examined the auditory status of Chinese children with nonsyndromic cleft lip/palate (NSCL/P), investigated factors associated with peripheral hearing loss and compared results with earlier studies in western countries. METHODS: Case history profiles and audiological data from 148 Chinese children with NSCL/P, aged between 6 and 15 years, who attended the Cleft Lip and Palate Clinic Center in a major Chinese urban hospital from July 2012 to September 2013 were acquired...
September 2016: International Journal of Pediatric Otorhinolaryngology
Jack Pein Cheong, Siew Shuin Soo, Anura Michelle Manuel
OBJECTIVE: To determine the factors contributing towards hearing impairment in patients with cleft lip/palate. METHOD: A prospective analysis was conducted on 173 patients (346 ears) with cleft lip and palate (CL/P) who presented to the combined cleft clinic at University Malaya Medical Centre (UMMC) over 12 months. The patients' hearing status was determined using otoacoustic emission (OAE), pure tone audiometry (PTA) and auditory brainstem response (ABR). These results were analysed against several parameters, which included age, gender, race, types of cleft pathology, impact and timing of repair surgery...
September 2016: International Journal of Pediatric Otorhinolaryngology
Hiroyuki Kondo, Itsuka Matsushita, Tatsuo Nagata, Takaaki Hayashi, Masashi Kakinoki, Eiichi Uchio, Mineo Kondo, Masahito Ohji, Shunji Kusaka
Stickler syndrome is an inherited connective tissue disorder that affects the eyes, cartilage and articular tissues. The phenotypes of Stickler syndrome include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft palate and midline facial hypoplasia. The disease is genetically heterogeneous, and the majority of the cases are caused by mutations in the COL2A1 gene. We examined 40 Japanese patients with Stickler syndrome from 23 families to determine whether they had mutations in the COL2A1 gene...
2016: Human Genome Variation
Pawina Jiramongkolchai, Manvinder S Kumar, Sivakumar Chinnadurai, Christopher T Wootten, Steven L Goudy
OBJECTIVE: The purpose of this study was to determine the prevalence and characterize the types of hearing loss in pediatric patients with 22q11.2 deletion syndrome (22q11DS). METHODS: Fifty-eight patients were identified via retrospective chart review performed of patients with 22q11DS between 1996 and 2014. Patient demographics, pertinent family history, associated comorbidities, and degree and type of hearing loss were gathered for each patient. A literature review of the National Library of Medicine's database with a focus on hearing loss and 22q11DS was performed...
August 2016: International Journal of Pediatric Otorhinolaryngology
R Ravishanker
BACKGROUND: The major drawbacks of standard procedures of palatoplasty have been inadequate palatal lengthening, velopharyngeal incompetence, impaired maxillary growth with mid-face retrusion and high fistula rates. The Furlow's double opposing Z-plasty is accepted as one of the better procedures for treating cleft palates. METHODS: This paper compared Furlow's procedure to Veau Kilner Wardill's procedure performed on 63 patients from July 2000 till February 2005...
July 2006: Medical Journal, Armed Forces India
Ting-Ying Lei, Hong-Tao Wang, Fan Li, Ying-Qiu Cui, Fang Fu, Ru Li, Can Liao
Interstitialdeletions of chromosome band 10q22.1q22.3 are rare. We here report a 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The girl's karyotype was normal. Chromosome microarray analysis (CMA) revealed a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3. The deletion harbors 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11. This is the first patient with a deletion of the smallest size in 10q22...
March 31, 2016: Cleft Palate-craniofacial Journal
Juan Li, Niu Li, Yu Ding, Xiaodong Huang, Yongnian Shen, Jian Wang, Xiumin Wang
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) pertains to a group of genetic disorders consisting of anosmic hypogonadotropic hypogonadism (Kallmann syndrome, KS) and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). KS is genetically heterogeneous. We hereby present 5 young male patients with GnRH deficiency caused by mutations in the KAL1 gene. Their ages ranged from 9 months to 16 years. They were referred to our department for an endocrine consultation for micropenis. Hormone assays showed low circulating gonadotropins and testosterone...
February 2016: Meta Gene
Pericles Foroglou, Antonis Tsimponis, Olga-Christina Goula, Efterpi Demiri
OBJECTIVE: Cleft lip and palate (CLP) is comprised within the wide range of congenital deformities of the maxillofacial region with an overall incidence on the increase from 1:1000 to 1:700 live births thus being the most common congenital birth error. Failure of the lateral and medial nasal processes to fuse with the anterior extension of maxillary processes and of the palatal shelves between the 4th and 8th gestational week results in cleft lip and palate. Clefts include different types with variable severity, confirming the complexity and unpredictable expression of cleft modality and have a multifactorial aetiology...
September 2015: Hellenic Journal of Nuclear Medicine
M Giordano, C Gertosio, S Pagani, C Meazza, I Fusco, E Bozzola, M Bozzola
BACKGROUND: Deletions of the long arm of chromosome X in males are a rare cause of X-linked intellectual disability. Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome. CASE PRESENTATION: In a 15 year boy, showing intellectual disability, short stature, hearing loss and dysmorphic facial features, a deletion at Xq21.1 was identified by array-CGH. This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development)...
2015: BMC Medical Genetics
Iain Bruce, Nicola Harman, Paula Williamson, Stephanie Tierney, Peter Callery, Syed Mohiuddin, Katherine Payne, Elisabeth Fenwick, Jamie Kirkham, Kevin O'Brien
BACKGROUND: Cleft lip and palate are among the most common congenital malformations, with an incidence of around 1 in 700. Cleft palate (CP) results in impaired Eustachian tube function, and 90% of children with CP have otitis media with effusion (OME) histories. There are several approaches to management, including watchful waiting, the provision of hearing aids (HAs) and the insertion of ventilation tubes (VTs). However, the evidence underpinning these strategies is unclear and there is a need to determine which treatment is the most appropriate...
August 2015: Health Technology Assessment: HTA
Jannine D Cody, Courtney Sebold, Patricia Heard, Erika Carter, Bridgette Soileau, Minire Hasi-Zogaj, Annice Hill, David Rupert, Brian Perry, Louise O'Donnell, Jon Gelfond, Jack Lancaster, Peter T Fox, Daniel E Hale
Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly challenging because every unrelated person has a unique region of hemizygosity. The hemizygous region can involve almost any region of 18q including between 1 and 101 genes (30 Mb of DNA). Most individuals have terminal deletions, but in our cohort of over 350 individuals 23% have interstitial deletions. Because of this heterogeneity, we take a gene by gene approach to understanding the clinical consequences...
September 2015: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
K H Hanny, I A C de Vries, S J Haverkamp, K P Q Oomen, W M Penris, M J C Eijkemans, M Kon, A B Mink van der Molen, C C Breugem
UNLABELLED: Cleft palate only (CPO) is a common congenital malformation, and most patients are diagnosed within the first weeks after birth. Late diagnosis of the cleft palate (CP) could initially result in feeding and growth impairment, and subsequently speech and hearing problems later in life. The purpose of this study is to retrospectively investigate (1) at which age CPO is diagnosed and (2) how the presence of syndromes and other factors relate to the age at diagnosis. The mean age of all children at our centre with CPO included between 1997 and 2014 at diagnosis (n = 271) was 1 year and 4 months...
January 2016: European Journal of Pediatrics
Jaqueline Lourenço Cerom, Camila de Cássia Macedo, Mariza Ribeiro Feniman
Introduction Any impairment in the hearing ability of a child with cleft lip and palate may cause difficulties in receptive and expressive language. Purpose Check the association between velopharyngeal dysfunction (VPD), compensatory articulation (CA), and peripheral hearing loss in children with cleft palate surgery. Methods Retrospective study with 60 children (group 1: presence of VPD and CA; group 2: absence of VPD, presence of CA; group 3: presence of VDP, absence of CA; group 4: absence of VPD and CA), age 4 to 5 years old, with cleft palate surgery, through the analysis of the hearing, VP, and speech evaluations...
January 2014: International Archives of Otorhinolaryngology
Lotta Sjögreen, Kajsa Eklund, Anna Nilsson, Christina Persson
PURPOSE: Möbius sequence is a rare disease characterized by congenital facial and abducent nerve palsy. Other cranial nerves may be affected. Cleft palate, intellectual disability and neuropsychiatric disorders are associated with the diagnosis. The aim was to explore speech production, intelligibility and oromotor function in a group of individuals with Möbius sequence. METHOD: Three children (5-11 years) and four adults (26-54 years) were recruited to the study via the Swedish Möbius syndrome association...
April 2, 2015: International Journal of Speech-language Pathology
P I Sergouniotis, G S Fincham, A M McNinch, C Spickett, A V Poulson, A J Richards, M P Snead
PURPOSE: To study the variability of the ophthalmic phenotype in Kniest dysplasia. Kniest dysplasia is an inherited disorder associated with defects in type II collagen and characterised by short-trunked dwarfism, kyphoscoliosis, and enlarged joints with restricted mobility. Other features include marked hand arthropathy, cleft palate, hearing loss, and ocular abnormalities (myopia, abnormal vitreous, and high risk of developing retinal detachment). METHODS: Data from eight unrelated individuals with a clinical and molecular diagnosis of Kniest dysplasia are reported...
April 2015: Eye
M K C Nair, A O Mini, M L Leena, Babu George, G S Harikumaran Nair, Deepa Bhaskaran, Paul Swamidhas Sudhakar Russell
OBJECTIVE: To assess the effect of systematic clinic and home based early language intervention program in children reporting to the early language intervention clinic with full partnership of specially trained developmental therapist and the parents. METHODS: All babies between 0 and 3 y referred to Child Development Centre (CDC) Kerala for suspected speech/language delay were assessed and those without hearing impairment were screened first using Language Evaluation Scale Trivandrum (LEST) and assessed in detail using Receptive Expressive Emergent Language Scale (REELS)...
December 2014: Indian Journal of Pediatrics
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