Nager Acrofacial Dysostosis
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
FROGLOG Newsletter of the Declining Amphibian Populations Task Force
Salamandra salamandra by Franco Andreone ISSN 1026-0269 FROGLOG Newsletter of the Declining Amphibian Populations Task Force August 2004, Number 64. Meteyer et al. (2000) and Ouellet very low number of abnormalities. We (2000). only found one L. kuhlii, which may We examined a total of 4,331 have strayed from a nearby stream. frogs of 23 species and found 20 A third of abnormalities were types of deformities in 9 species of due to trauma; these included digit frogs. We divided deformities into two amputations (16% of all general types: developmental abnormalities), limb amputations (2%), abnormalities and trauma (injuries). fractured limbs (7%) and skin wounds Morphological Abnormalities in We distinguished trauma (4%). The most common Frogs of West Java, Indonesia abnormalities based on the developmental abnormalities were appearance of old scars or, if they digital (43%) and, of these, By Mirza D. Kusrini, Ross A. Alford, involved digits, the occurrence of brachydactyly (16.3%), syndactyly Anisa Fitri, Dede M. Nasir, Sumantri digital re-growth. Developmental (14.6%) and ectrodactyly (11.4%) Rahardyansah abnormalities occurred in limbs were the three most common. In recent decades, amphibian (amelia, micromelia, brachymelia, The oldest specimen of F. deformities have generated public hemimelia, ectromelia, taumelia, cuta- limnocharis stored in the MZB that interest as high incidences have been neous fusions), digits (ectrodactyly, exhibited abnormalities was a juvenile found in several locations, notably in brachydactyly, syndactyly, polydactyly, frog captured on 16 November 1921 North America (Helgen et al., 1998; clinodactyly), the back-bone (scoli- from Bogor without one leg (amelia) Ouellet, 2000). The only report on the osis), the eyes (anophthalmy) and the (ID057.10). -
Genetics of Congenital Hand Anomalies
G. C. Schwabe1 S. Mundlos2 Genetics of Congenital Hand Anomalies Die Genetik angeborener Handfehlbildungen Original Article Abstract Zusammenfassung Congenital limb malformations exhibit a wide spectrum of phe- Angeborene Handfehlbildungen sind durch ein breites Spektrum notypic manifestations and may occur as an isolated malforma- an phänotypischen Manifestationen gekennzeichnet. Sie treten tion and as part of a syndrome. They are individually rare, but als isolierte Malformation oder als Teil verschiedener Syndrome due to their overall frequency and severity they are of clinical auf. Die einzelnen Formen kongenitaler Handfehlbildungen sind relevance. In recent years, increasing knowledge of the molecu- selten, besitzen aber aufgrund ihrer Häufigkeit insgesamt und lar basis of embryonic development has significantly enhanced der hohen Belastung für Betroffene erhebliche klinische Rele- our understanding of congenital limb malformations. In addi- vanz. Die fortschreitende Erkenntnis über die molekularen Me- tion, genetic studies have revealed the molecular basis of an in- chanismen der Embryonalentwicklung haben in den letzten Jah- creasing number of conditions with primary or secondary limb ren wesentlich dazu beigetragen, die genetischen Ursachen kon- involvement. The molecular findings have led to a regrouping of genitaler Malformationen besser zu verstehen. Der hohe Grad an malformations in genetic terms. However, the establishment of phänotypischer Variabilität kongenitaler Handfehlbildungen er- precise genotype-phenotype correlations for limb malforma- schwert jedoch eine Etablierung präziser Genotyp-Phänotyp- tions is difficult due to the high degree of phenotypic variability. Korrelationen. In diesem Übersichtsartikel präsentieren wir das We present an overview of congenital limb malformations based Spektrum kongenitaler Malformationen, basierend auf einer ent- 85 on an anatomic and genetic concept reflecting recent molecular wicklungsbiologischen, anatomischen und genetischen Klassifi- and developmental insights. -
Reportable BD Tables Apr2019.Pdf
April 2019 Georgia Department of Public Health | Division of Health Protection | Maternal and Child Health Epidemiology Unit Reportable Birth Defects with ICD-10-CM Codes Reportable Birth Defects in Georgia with ICD-10-CM Diagnosis Codes Table D.1 Brain Malformations and Neural Tube Defects ICD-10-CM Diagnosis Codes Birth Defect ICD-10-CM 1. Brain Malformations and Neural Tube Defects Q00-Q05, Q07 Anencephaly Q00.0 Craniorachischisis Q00.1 Iniencephaly Q00.2 Frontal encephalocele Q01.0 Nasofrontal encephalocele Q01.1 Occipital encephalocele Q01.2 Encephalocele of other sites Q01.8 Encephalocele, unspecified Q01.9 Microcephaly Q02 Malformations of aqueduct of Sylvius Q03.0 Atresia of foramina of Magendie and Luschka (including Dandy-Walker) Q03.1 Other congenital hydrocephalus (including obstructive hydrocephaly) Q03.8 Congenital hydrocephalus, unspecified Q03.9 Congenital malformations of corpus callosum Q04.0 Arhinencephaly Q04.1 Holoprosencephaly Q04.2 Other reduction deformities of brain Q04.3 Septo-optic dysplasia of brain Q04.4 Congenital cerebral cyst (porencephaly, schizencephaly) Q04.6 Other specified congenital malformations of brain (including ventriculomegaly) Q04.8 Congenital malformation of brain, unspecified Q04.9 Cervical spina bifida with hydrocephalus Q05.0 Thoracic spina bifida with hydrocephalus Q05.1 Lumbar spina bifida with hydrocephalus Q05.2 Sacral spina bifida with hydrocephalus Q05.3 Unspecified spina bifida with hydrocephalus Q05.4 Cervical spina bifida without hydrocephalus Q05.5 Thoracic spina bifida without -
A Narrative Review of Poland's Syndrome
Review Article A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment Eman Awadh Abduladheem Hashim1,2^, Bin Huey Quek1,3,4^, Suresh Chandran1,3,4,5^ 1Department of Neonatology, KK Women’s and Children’s Hospital, Singapore, Singapore; 2Department of Neonatology, Salmanya Medical Complex, Manama, Kingdom of Bahrain; 3Department of Neonatology, Duke-NUS Medical School, Singapore, Singapore; 4Department of Neonatology, NUS Yong Loo Lin School of Medicine, Singapore, Singapore; 5Department of Neonatology, NTU Lee Kong Chian School of Medicine, Singapore, Singapore Contributions: (I) Conception and design: EAA Hashim, S Chandran; (II) Administrative support: S Chandran, BH Quek; (III) Provision of study materials: EAA Hashim, S Chandran; (IV) Collection and assembly: All authors; (V) Data analysis and interpretation: BH Quek, S Chandran; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: A/Prof. Suresh Chandran. Senior Consultant, Department of Neonatology, KK Women’s and Children’s Hospital, Singapore 229899, Singapore. Email: [email protected]. Abstract: Poland’s syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported. Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, “the subclavian artery supply disruption sequence” (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function. -
TP63-Mutation As a Cause of Prenatal Lethal Multicystic Dysplastic Kidneys
Western University Scholarship@Western Paediatrics Publications Paediatrics Department 11-1-2020 TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys Isabel Friedmann Carla Campagnolo Nancy Chan Ghislain Hardy Maha Saleh Follow this and additional works at: https://ir.lib.uwo.ca/paedpub Part of the Pediatrics Commons Received: 28 April 2020 | Revised: 8 August 2020 | Accepted: 10 August 2020 DOI: 10.1002/mgg3.1486 CLINICAL REPORT TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys Isabel Friedmann1 | Carla Campagnolo2 | Nancy Chan1,3 | Ghislain Hardy1,4 | Maha Saleh1,2 1Schulich School of Medicine and Dentistry, University of Western Ontario, Abstract London, ON, Canada Background: Ectrodactyly-ectodermal dysplasia-clefting syndrome 3 (EEC) is 2Division of Genetics and Metabolism, one of the six overlapping syndromes caused by mutations in the tumor protein p63 Department of Paediatrics, London Health gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly, Sciences Centre, London, ON, Canada 3 and syndactyly, abnormal development of the ectodermally derived structures, and Department of Pathology, London Health Sciences Centre, London, ON, Canada orofacial clefting. Genitourinary (GU) anomalies have been identified in patients 4Department of Obstetrics and Gynecology, with EEC, yet these are often under-recognized and under-reported. The available London Health Sciences Centre, London, literature on sonographic prenatal findings is sparse, especially when considering ON, Canada GU anomalies. Correspondence Methods: We present the case of a male stillborn fetus, who was found antenatally to Isabel Friedmann, University of Western have multicystic dysplastic kidneys and anhydramnios. Following the termination of Ontario, Schulich School of Medicine and Dentistry, London, Ontario, Canada. -
CASE REPORT Radiographic Diagnosis of a Rare Case Of
CASE REPORT Radiographic diagnosis of a rare case of oculodentodigital dysplasia Umesh Chandra Parashari, M.D. Sachin Khanduri, M.D. Samarjit Bhadury, M.D. Fareena Akbar Qayyum, M.B.B.S. Department of Radiodiagnosis, Lucknow Medical College, Lucknow, Uttar Pradesh, India Corresponding author: U Parashari ([email protected]) Abstract Oculodentodigital dysplasia (ODDD), also known as oculodento- osseous dysplasia, is an extremely rare autosomal dominant disorder with high penetrance, intra- and interfamilial phenotypic variability, and advanced paternal age in sporadic cases. The incidence of this disease is not precisely known, with only 243 cases reported in the scientific literature, suggesting an incidence of around 1 in 10 million people. It is marked mainly by eye abnormalities, craniofacial dysmorphism, dental anomalies, hand and foot malformations, various skeletal defects, and mildly Fig. 1. Photograph of the patient at age one year (1A) and 16 years (1B and 1C) showing hypotrichosis and pili annulati. The face is small with narrow delayed mental development. Neurological changes may appear eyes, thin nose, prominent columella and wide mandible. The fingers are earlier in each subsequent generation. This case report describes underdeveloped and deformed. a radiological diagnosis of ODDD based on physical appearance, clinical features and radiographic findings in a 16-year-old girl. Case report A 16-year-old girl presented to the hospital with complaints of weakness Introduction in her lower limbs, abnormal dentition and bladder incontinence. On Oculodentodigital dysplasia (ODDD) is a condition that affects many general examination, her gait was ataxic with moderate spasticity in parts of the body, particularly the eyes, teeth and fingers, as the both legs. -
Blueprint Genetics Craniosynostosis Panel
Craniosynostosis Panel Test code: MA2901 Is a 38 gene panel that includes assessment of non-coding variants. Is ideal for patients with craniosynostosis. About Craniosynostosis Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape. It may result from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). Premature closure of the sutures (fibrous joints) causes the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome with a variety of inheritance patterns and reccurrence risks. Craniosynostosis occurs in 1/2,200 live births. Availability 4 weeks Gene Set Description Genes in the Craniosynostosis Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ALPL Odontohypophosphatasia, Hypophosphatasia perinatal lethal, AD/AR 78 291 infantile, juvenile and adult forms ALX3 Frontonasal dysplasia type 1 AR 8 8 ALX4 Frontonasal dysplasia type 2, Parietal foramina AD/AR 15 24 BMP4 Microphthalmia, syndromic, Orofacial cleft AD 8 39 CDC45 Meier-Gorlin syndrome 7 AR 10 19 EDNRB Hirschsprung disease, ABCD syndrome, Waardenburg syndrome AD/AR 12 66 EFNB1 Craniofrontonasal dysplasia XL 28 116 ERF Craniosynostosis 4 AD 17 16 ESCO2 SC phocomelia syndrome, Roberts syndrome -
Holoprosencephaly and Preaxial Polydactyly Associated with a 1.24 Mb Duplication Encompassing FBXW11 at 5Q35.1
J Hum Genet (2006) 51:721–726 DOI 10.1007/s10038-006-0010-8 SHORT COMMUNICATION Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1 David A. Koolen Æ Jos Herbergs Æ Joris A. Veltman Æ Rolph Pfundt Æ Hans van Bokhoven Æ Hans Stroink Æ Erik A. Sistermans Æ Han G. Brunner Æ Ad Geurts van Kessel Æ Bert B. A. de Vries Received: 22 March 2006 / Accepted: 2 May 2006 / Published online: 25 July 2006 Ó The Japan Society of Human Genetics and Springer-Verlag 2006 Abstract Holoprosencephaly (HPE) is the most gion encompasses seven genes: RANBP17, TLX3, common developmental defect affecting the forebrain NPM1, FGF18, FBXW11, STK10, and DC-UbP. Since and midface in humans. The aetiology of HPE is highly FBXW11 is relatively highly expressed in fetal brain heterogeneous and includes both environmental and and is directly involved in proteolytic processing of genetic factors. Here we report on a boy with mild GLI3, we propose FBXW11 as the most likely candi- mental retardation, lobar HPE, epilepsy, mild pyra- date gene for the HPE and prexial polydactyly phe- midal syndrome of the legs, ventricular septal defect, notype. Additional research is needed to further vesicoureteral reflux, preaxial polydactyly, and facial establish the role of genes from the 5q35.1 region in dysmorphisms. Genome-wide tiling path resolution brain and limb development and to determine the array based comparative genomic hybridisation (array prevalence of copy number gain in the 5q35.1 region CGH) revealed a de novo copy-number gain at 5q35.1 among HPE patients. -
Anaesthesia for Chest Wall Reconstruction in a Patient with Poland Syndrome: CARE- Compliant Case Report and Literature Review
Anaesthesia for chest wall reconstruction in a patient with Poland syndrome: CARE- compliant case report and literature review The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters Citation Gui, Lingli, Shiqian Shen, and Wei Mei. 2018. “Anaesthesia for chest wall reconstruction in a patient with Poland syndrome: CARE- compliant case report and literature review.” BMC Anesthesiology 18 (1): 57. doi:10.1186/s12871-018-0518-4. http://dx.doi.org/10.1186/ s12871-018-0518-4. Published Version doi:10.1186/s12871-018-0518-4 Citable link http://nrs.harvard.edu/urn-3:HUL.InstRepos:37160167 Terms of Use This article was downloaded from Harvard University’s DASH repository, and is made available under the terms and conditions applicable to Other Posted Material, as set forth at http:// nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of- use#LAA Gui et al. BMC Anesthesiology (2018) 18:57 https://doi.org/10.1186/s12871-018-0518-4 CASEREPORT Open Access Anaesthesia for chest wall reconstruction in a patient with Poland syndrome: CARE- compliant case report and literature review Lingli Gui1, Shiqian Shen2 and Wei Mei1* Abstract Background: Poland syndrome is a rare congenital disease, characterized by agenesis/hypoplasia of the pectoralis major muscle, usually associated with variable thoracic anomalies that needed chest wall reconstruction under general anesthesia. Anaesthetic management in Poland syndrome has scarcely been described. Case presentation: Here, we present our anaesthetic management of Nuss procedure for chest wall correction in a 5 years old patient with Poland syndrome. -
Prenatal Ultrasonography of Craniofacial Abnormalities
Prenatal ultrasonography of craniofacial abnormalities Annisa Shui Lam Mak, Kwok Yin Leung Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong SAR, China REVIEW ARTICLE https://doi.org/10.14366/usg.18031 pISSN: 2288-5919 • eISSN: 2288-5943 Ultrasonography 2019;38:13-24 Craniofacial abnormalities are common. It is important to examine the fetal face and skull during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to the fetal Received: May 29, 2018 skull and face can increase the detection rate. When an abnormality is found, it is important Revised: June 30, 2018 to perform a detailed scan to determine its severity and search for additional abnormalities. Accepted: July 3, 2018 Correspondence to: The use of 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate and Kwok Yin Leung, MBBS, MD, FRCOG, craniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate, Cert HKCOG (MFM), Department of micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostic Obstetrics and Gynaecology, Queen Elizabeth Hospital, Gascoigne Road, techniques are indicated to exclude chromosomal abnormalities. Molecular analysis for some Kowloon, Hong Kong SAR, China syndromes is feasible if the family history is suggestive. Tel. +852-3506 6398 Fax. +852-2384 5834 E-mail: [email protected] Keywords: Craniofacial; Prenatal; Ultrasound; Three-dimensional ultrasonography; Fetal structural abnormalities This is an Open Access article distributed under the Introduction terms of the Creative Commons Attribution Non- Commercial License (http://creativecommons.org/ licenses/by-nc/3.0/) which permits unrestricted non- Craniofacial abnormalities are common. -
A Progressive and Complex Clinical Course in Two Family Members With
Körberg et al. BMC Medical Genetics (2020) 21:90 https://doi.org/10.1186/s12881-020-01015-z CASE REPORT Open Access A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report Izabella Körberg1*, Daniel Nowinski2, Marie-Louise Bondeson1, Malin Melin1, Lars Kölby3 and Eva-Lena Stattin1 Abstract Background: ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathogenic variant and a detailed description of their clinical course. Case presentation: Two subjects; a boy with a BLSS requiring repeated skull expansions and his mother who had been operated once for sagittal synostosis. Both developed intracranial hypertension at some point during the course, which was for both verified by formal invasive intracranial pressure monitoring. Exome sequencing revealed a pathogenic truncating frame shift variant in the ERF gene. Conclusions: Here we describe a boy and his mother with different craniosynostosis patterns, but both with verified intracranial hypertension and heterozygosity for a truncating variant of ERF c.1201_1202delAA (p.Lys401Glufs*10). Our work provides supplementary evidence in support of previous phenotypic descriptions of ERF-related craniosynostosis, particularly late presentation, an evolving synostotic pattern and variable expressivity even among affected family members. Keywords: ERF, Craniosynostosis, Intracranial hypertension Background pressure and intellectual disability. It is usually classified Craniosynostosis (CS) is clinically and genetically a based on suture fusion type: sagittal, metopic, bi−/unicor- heterogenous congenital anomaly with an incidence of 1 onal, bi−/unilambdoid and complex, or multisutural. -
Current Advances in Holt-Oram Syndrome Taosheng Huang, MD, Phd
Current advances in Holt-Oram syndrome Taosheng Huang, MD, PhD Holt-Oram syndrome is an autosomal-dominant condition Clinical features characterized by congenital cardiac and forelimb anomalies. It Holt and Oram first described this syndrome when they is caused by mutations of the TBX5 gene, a member of the reported on a family with atrial septal defects and con- T-box family that encodes a transcription factor. Molecular genital anomalies of the thumbs [1]. Since then, about studies have demonstrated that mutations predicted to create 200 clinical papers have been published that further de- null alleles cause substantial abnormalities in both the limbs lineate the clinical features of Holt-Oram syndrome and heart, and that missense mutations of TBX5 can produce (HOS). The prevalence of HOS is 1 of 100,000 live distinct phenotypes. One class of missense mutations causes births, and it occurs with wide ethnic and geographic significant cardiac malformations but only minor skeletal distribution. Its clinical manifestations have proved to be abnormalities; others might cause extensive upper limb variable [2,3•,4•], but with complete penetrance. All pa- malformations but less significant cardiac abnormalities. tients with HOS have upper limb anomaly and about Intrafamilial variations of the malformations strongly suggest 85% to 95% have cardiac malformation. On the basis of that genetic background or modifier genes play an important these findings, the criteria for diagnosis include either role in the phenotypic expression of HOS. Efforts to the presence of cardiac malformations, conduction de- understand the intracellular pathway of TBX5 would provide a fects and radial ray abnormalities (or both) in an indi- unique window onto the molecular basis of common vidual, or the presence of radial ray abnormalities with or congenital heart diseases and limb malformations.