A Case of Ectrodactyly in a Chow Chow Dog
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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. -
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 -
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. -
Craniosynostosis Precision Panel Overview Indications Clinical Utility
Craniosynostosis Precision Panel Overview Craniosynostosis is defined as the premature fusion of one or more cranial sutures, often resulting in abnormal head shape. It is a developmental craniofacial anomaly resulting from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). As well, craniosynostosis can be simple when only one suture fuses prematurely or complex/compound when there is a premature fusion of multiple sutures. Complex craniosynostosis are usually associated with other body deformities. The main morbidity risk is the elevated intracranial pressure and subsequent brain damage. When left untreated, craniosynostosis can cause serious complications such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, eye anomalies and psychosocial disturbances. In approximately 85% of the cases, this disease is isolated and nonsyndromic. Syndromic craniosynostosis usually present with multiorgan complications. The Igenomix Craniosynostosis Precision Panel can be used to make a directed and accurate diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. Indications The Igenomix Craniosynostosis Precision Panel is indicated for those patients with a clinical diagnosis or suspicion with or without the following manifestations: ‐ Microcephaly ‐ Scaphocephaly (elongated head) ‐ Anterior plagiocephaly ‐ Brachycephaly ‐ Torticollis ‐ Frontal bossing Clinical Utility The clinical utility of this panel is: - The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. - Early initiation of treatment in the form surgical procedures to relieve fused sutures, midface advancement, limited phase of orthodontic treatment and combined 1 orthodontics/orthognathic surgery treatment. -
Letter to Editor Sep 2012; Vol 22 (No 3), Pp: 432-433
Iran J Pediatr Letter to Editor Sep 2012; Vol 22 (No 3), Pp: 432-433 Isolated Lower Limb Phocomelia – a Rare Limb Malformation pregnancy. First born baby died at the age of 10 postnatal day, cause is unknown, but he was apparently not having any congenital Priyanka Bansal*, MD; Akhil Bansal, MD, and malformation. Physical examination revealed Shitalmala Devi, MD weight 4.8 kg, length 54.5 cm, head circumference 36.5 cm, no facial dysmorphism, spine normal. Only deformity was phocomelia of Jawaharlal Nehru Medical College, Department of Pathology, India Jan 29, 2011 Mar 24, 2012 left lower limb (Fig. 1). Systemic examination was normal. X ray pelvis with both lower limbs Received: ; Accepted: showed left lower limb showed absent femur, tibia and fibula, a single tarsal bone visualized, Phocomelia, ie the absence or severe hypoplasia distal foot appears grossly normal. Right hip and of the long tubular bones with more or less femur do not reveal any abnormality. Chest X ray intact hands and or feet, is widely known to be was absolutely normal and abdominal the most spectacular[1] finding of thalidomide sonography abdomen and cranianl showed no embryopathy . It may be complete in the form abnormality. 2-dimensional echocardiography that proximal and distal bones of limb are absent was done to rule out congenital heart defect, or may be incomplete when either proximal or which was also[2] normal. distal bones are missing. It is known to occur in Phocomelia in the complete form, the arm some familial[10] syndromes such as Roberts[8] and forearm are absent in the upper limb and syndrome , the DK Phocomelia syndrome the thigh and leg are absent in the lower limb and in a few other extremely rare syndromes. -
An Interesting Case of Phocomelia
International Journal of Reproduction, Contraception, Obstetrics and Gynecology Lavanya C et al. Int J Reprod Contracept Obstet Gynecol. 2020 Feb;9(2):866-870 www.ijrcog.org pISSN 2320-1770 | eISSN 2320-1789 DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20200396 Case Report An interesting case of Phocomelia C. Lavanya1*, T. Ramani Devi2, D. Gayathri3 1Department of Obstetrics and Gynecology, Malar hospital, Trichy, Tamil Nadu, India 2Department of Obstetrics and Gynecology, Ramakrishna Medical Centre LLP and Janani Fertility Centre, Trichy, Tamil Nadu, India 3Department of Obstetrics and Gynecology, Ramakrishna Medical Centre LLP, Trichy, Tamil Nadu, India Received: 25 September 2019 Revised: 21 December 2019 Accepted: 27 December 2019 *Correspondence: Dr. C. Lavanya, E-mail: [email protected] Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACT Authors present a very rare case of tetra-phocomelia evaluated by antenatal ultrasonography. It is a condition seen in 0.62 per 100,000 live births. This is a congenital chromosomal abnormality involving the musculoskeletal system. Primi gravida with spontaneous conception after a long period of infertility underwent early anomaly scan. Patient was not aware of the last menstrual period hence; NT scan was missed. Routine early anomaly scan done between 16- 18 weeks of pregnancy diagnosed a fetus with Tetra-Phocomelia. Due to the lack of associated symptoms or significant history, our case did not fit into any specific syndrome and appears to be the result of a sporadic, non- hereditary limb deficiency involving all four limb buds. -
Phocomelia Syndrome - a Case Report Gayatri S
JKIMSU, Vol. 1, No. 2, July-Dec. 2012 ISSN 2231-4261 CASE REPORT Phocomelia Syndrome - A Case Report Gayatri S. Chakre 1*, S. U. Chakre2, P. R. Kulkarni1 1Department of Anatomy, 2Department of Pediatrics, Dr. V. M. Government Medical College, Solapur- 413003 (Maharashtra), India Abstract: at Civil Hospital attached to Dr. V. M. Govt. Medical College, Solapur. After birth, baby was Phocomelia is an extremely rare malformation referred to NICU for congenital limb anomaly. in which babies are born with limbs that look The mother did not have any antenatal history like flippers on a seal. Although various fac- of drug intake or any other complications. tors can cause phocomelia, the prominent roots On examination, the neonate had underdevel- came from the drug use of thalidomide and from oped upper limbs, thumbs were missing on both genetic inheritance. Phocomelia is transmitted sides, with 4 fingers on right and 3 fingers on as an autosomal recessive trait with variable left side. On systemic examination, pansystolic expressivity and malformation is linked to murmur of grade 3 was present suggestive of chromosome 8. ventricular septal defect, which was confirmed Key Words: Phocomelia, meromelia, Thali- by 2-D-echo. On the basis of findings phoc- domide syndrome. omelia syndrome was suspected. Case report: Discussion: A full term male child born of non consanguin- Embryological basis of malformation of limbs eous marriage with birth weight of 2.6 kg was show that an individual will have chromosome delivered vaginally to 26 yrs old primi gravida copies that do not connect at centromeres Ó Journal of Krishna Institute of Medical Sciences University 150 JKIMSU, Vol. -
Appendix 3.1 Birth Defects Descriptions for NBDPN Core, Recommended, and Extended Conditions Updated March 2017
Appendix 3.1 Birth Defects Descriptions for NBDPN Core, Recommended, and Extended Conditions Updated March 2017 Participating members of the Birth Defects Definitions Group: Lorenzo Botto (UT) John Carey (UT) Cynthia Cassell (CDC) Tiffany Colarusso (CDC) Janet Cragan (CDC) Marcia Feldkamp (UT) Jamie Frias (CDC) Angela Lin (MA) Cara Mai (CDC) Richard Olney (CDC) Carol Stanton (CO) Csaba Siffel (GA) Table of Contents LIST OF BIRTH DEFECTS ................................................................................................................................................. I DETAILED DESCRIPTIONS OF BIRTH DEFECTS ...................................................................................................... 1 FORMAT FOR BIRTH DEFECT DESCRIPTIONS ................................................................................................................................. 1 CENTRAL NERVOUS SYSTEM ....................................................................................................................................... 2 ANENCEPHALY ........................................................................................................................................................................ 2 ENCEPHALOCELE ..................................................................................................................................................................... 3 HOLOPROSENCEPHALY............................................................................................................................................................. -
Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (Vii)
■ REVIEW ARTICLE ■ SYNDROMES, DISORDERS AND MATERNAL RISK FACTORS ASSOCIATED WITH NEURAL TUBE DEFECTS (VII) Chih-Ping Chen1,2,3,4,5* 1Department of Obstetrics and Gynecology, and 2Medical Research, Mackay Memorial Hospital, Taipei, 3Department of Biotechnology, Asia University, 4School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, and 5Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan. SUMMARY Neural tube defects (NTDs) may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome), Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher- Zweymüller syndrome, parietal foramina (cranium bifidum), Apert syndrome, craniomicromelic syndrome, XX- agonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of mater- nal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different -
The Baller-Gerold Syndrome
26626 Med Genet 1992; 29: 266-268 The Baller-Gerold syndrome L Van Maldergem, A Verloes, L Lejeune, Y Gillerot Abstract grandmothers, bearing the same name, origin- A case of severe craniosynostosis-radial ated from the same small village and called aplasia (Baller-Gerold) syndrome is de- each other 'cousin'. The pregnancy was scribed in a newborn male, following a uneventful until 7 months of gestation when pregnancy complicated by polyhydram- intrauterine growth retardation (IUGR) was nios and intrauterine growth retard- first detected on echography. Fetal weight cal- ation. Death occurred after two hours culated from abdominal measurement and owing to a prolonged apnoeic spell. Ex- femur length decreased from the 50th to the tensive agenesis of the frontal and 3rd centile. At 8 months, major malformations parietal bones, resulting in a very large of the cranial vault could be seen. The limbs fontanelle, in addition to coronal bilat- could not be visualised clearly because of the eral craniosynostosis was observed at lack of amniotic fluid owing to advanced gesta- necropsy. There was also bilateral radial tional age. Diabetes mellitus screening tests agenesis, oligodactyly of the hands and were negative. Birth occurred at 37 weeks with feet, a midline facial angioma, and a breech presentation. The baby weighed Humaine, Institut de scrotally positioned anus, all of which 2250 g, length 43 cm, and head circumference Morphologie have been described in some of the 10 35 cm. Apgar score were 10 and 7 at one and Pathologique, Allee previously reported cases. Microcephaly, five minutes. A severe malformation complex des Templiers 41, erythroblastosis of the liver, and pan- B-6280 Gerpinnes was obvious and included the following: turri- (Loverval), Belgium.