Arabian Gulf University Kingdom of Bahrain Year 5 Pediatrics 2 nd Week Dr. Zakariya Al-Akri Common and Uncommon Conditions

Similar documents
Dysmorphology. Sue White. Diagnostic Dysmorphology, Aase. Victorian Clinical Genetics Services

Genetics and Developmental Disabilities. Stuart K. Shapira, MD, PhD. Pediatric Genetics Team

HEAD TO FOOT EXAMINATION DR JP,ASST. PROF.ICH,GOVT MEDICAL COLLEGE KOTTAYAM

Chromosome Disease. The general features in autosome abnormalities are a triad of growth retardation, mental

CHROMOSOMAL NUMERICAL ABERRATIONS INSTITUTE OF BIOLOGY AND MEDICAL GENETICS OF THE 1 ST FACULTY OF MEDICINE

Arabian Gulf University Kingdom of Bahrain Year 5 Pediatrics 3 rd Week Discussion with Dr. Muna Al-Jufairi (Part 2)

THE KING AND THE SCRATCHED DIAMOND

APPROACH TO A DYSMORPHIC INDIVIDUAL. Denise LM Goh

Lab #10: Karyotyping Lab

TERMS: Neonatal Period: Birth --> 28 days of life. Term Infant: weeks of gestation

NYEIS Version 4.3 (ICD) ICD - 10 Codes Available in NYEIS at time of version launch (9/23/2015)

Extra Notes 3. Warm. In the core (center) of the body, where the temperature is 37 C.

Bench to Bassinet Pediatric Cardiac Genomics Consortium: CHD GENES Form 105: Congenital Extracardiac Findings Version: B - 11/01/2010

(i) Family 1. The male proband (1.III-1) from European descent was referred at

What is Craniosynostosis?

Early Identification of Young Children with Deaf-Blindness

Demodex canis mites living within the skin layers and producing an immunodeficiency syndrome. Fold dermatitis An inflammation of skin folds

In adults, the predominant Hb (HbA) molecule has four chains: two α and two β chains. In thalassemias, the synthesis of either the α or the β chains

m. concetta lupa m.d. assistant professor of anesthesiology and pediatrics UNC Syndromes when being unique can be scary

Chapter 15 Chromosomes

Remember from the first year embryology Trilaminar disc has 3 layers: ectoderm, mesoderm, and endoderm

A. Definitions... CD-157. B. General Information... CD-158

Skeletal System. Prof. Dr. Malak A. Al-yawer Department of Anatomy/Embryology Section

SICKLE CELL DISEASE. Dr. MUBARAK ABDELRAHMAN MD PEDIATRICS AND CHILD HEALTH. Assistant Professor FACULTY OF MEDICINE -JAZAN

Klinefelter syndrome ( 47, XXY )

Birth injuries. Dr. Nihad Al Doori 3 rd lecture

Head and Face Anatomy

Fetal Medicine. Case Presentations. Dr Ermos Nicolaou Fetal Medicine Unit Chris Hani Baragwanath Hospital. October 2003

Faravareh Khordadpoor (PhD in molecular genetics) 1- Tehran Medical Genetics Laboratory 2- Science and research branch, Islamic Azad University

Preferred language: PATIENT INFORMATION. Date of birth (dd/mm/yyyy): Age: Sex: Male Female. City: State: Country: Zip code:

Craniosynostosis. Diagnosis and Treatment

Physical examination- inspection Internal Medicine 3rd year. Dr. Székely Hajnal

Disclosures None. Common Neurosurgical Problems Seen in Office Encounters. Macrocephaly Low Back Pain Sacral Dimple Concussion Chiari Malformation

Table P-l. Summary of Dioxin-by-Covariate Interactions for. Selected Birth Defects

Chapter 21 The Newborn At Risk: Congenital Disorders

Allergic Rhinitis. Dr. Sasan Dabiri. Otorhinolaryngologist Head & Neck Surgeon January 2011 Imam Hospital complex - Tehran

Congenital Anomalies

Ultrasound Anomaly Details

An Introduction to Dysmorphology Clinical Approach and Classification. Dr. malek nia Genetic consulting center Of welfare organization

Elements of Dysmorphology I. Krzysztof Szczałuba

ANATOMY & PHYSIOLOGY I Laboratory Version B Name Section. REVIEW SHEET Exercise 10 Axial Skeleton

Sierra Smith Bio 205 Extra Credit Essay. My Face. Growing up I was always told that it takes 43 muscles to frown but only 17

The basic methods for studying human genetics are OBSERVATIONAL, not EXPERIMENTAL.

UNIT IX: GENETIC DISORDERS

OPERATIVE CORRECTION BY OSTEOTOMY OF RECESSED MALAR MAXILLARY COMPOUND IN A CASE OF OXYCEPHALY

Human Genetic Disorders

Chapter 8. Pediatric Surgery

The skeletal system is the framework for the muscular system to attach to so we can move.

Cardiovascular Genetics Clinic Vascular Questionnaire

Basic Training. ISUOG Basic Training Examining the Upper Lip, Face & Profile

Semiology of musculoskeletal system in children:

Objectives. VACTERL Association. Vertebral Anomalies Anal Atresia Cardiac anomalies TE Fistula Renal Limb Anomalies Hydrocephalus

Clinical Guidance. Neonatal Manual Chapter 10: Musculoskeletal problems

Preconception/prenatal family history questionnaire

Reconstructive and Cosmetic Services

Central nervous system. Obstetrics Content Outline Obstetrics - Fetal Abnormalities

Quick Reference Guide

Department of Neurosurgery. Differentiating Craniosynostosis from Positional Plagiocephaly

Neonatal Hypotonia Guideline Prepared by Dan Birnbaum MD August 27, 2012

Hths 2231 Laboratory 3 Genetics

North Oaks Trauma Symposium Friday, November 3, 2017

Musculoskeletal System (Part A-1) Module 7 -Chapter 10 Overview. Functions

NEW PATIENT FORM. Please print in ink and fill in all blanks Please fill out front and back. Patient s Full Name

Cleidocranial Dysplasia

CT - Brain Examination

Anatomy of. External NOSE. By Dr Farooq Aman Ullah Khan PMC

Prevention Diagnosis

PEDIATRICS. Module Topic/Content Student Learning Outcomes Resources Clinical Assessment Activities Course/Clinical Outcomes

!"#$%&'%()'*+,-%&&.'+('*/%)+%,#+0' 12/.,'3%)+"4#%52.

Medical Conditions Resulting in High Probability of Developmental Delay and DSCC Screening Information

Common Genetic syndromes. Dr. E.M. Honey Department Genetics Division Human Genetics University of Pretoria

Obstetric Brachial Plexus Injuries. Surgery department grand rounds Bassam MJ Addas, FRCSC Neurological Surgery, KAUH

Investigation of chromosomal abnormalities and microdeletions in 50 patients with multiple congenital anomalies

Chapter 7 The Skeletal System:The Axial Skeleton

Hypochromic Anaemias

Perenial Allergic Rhinosinusitis and OMM

Dr.ALI AL BAZZAZ PLASTIC SURGON CLEFT LIP AND PALATE

Hemolytic anemias (2 of 2)

Finding New Friends Down Syndrome. Pedicases

Supplementary Online Content

How to Recognize a Suspected Cardiac Defect in the Neonate

Case Report A Case with Mega Cisterna Magna Renal and Ear Anomalies: Is This a New Syndrome?

Pregnancy, birth and postnatal information for women who have epilepsy

AXIAL SKELETON SKULL

CHAPTER 13 SKELETAL SYSTEM

Tanta University. Faculty of Medicine. Plastic and Reconstructive Surgery Department. Doctorate Degree in Plastic Surgery

Physical examination of Newborn By Dr behzad barekatain MD Assistant professor of pediatrics, neonatologist Academic member of isfahan university of

Objectives See course web page for full objectives Read : , (not Bayes theorem section)

CHAPTER 7, PART II (BONES)

Lab no 1 Structural organization of the human body

Percussion These 4 techniques are the foundation of the physical exam. Respiration Blood pressure Body

Head and Neck Examination

CONV. TYPE Unspecified pervasive developmental disorder YES NO Approx. F84.9 Pervasive developmental disorder, unspecified YES YES 307.

Craniosynostosis and Plagiocephaly

Date Lab Pd. Lecture Notes (57)

Craniofacial Microsomia

Basic Training. ISUOG Basic Training The 20 Planes Approach to the Routine Mid Trimester Scan

Genetic Disorders. PART ONE: Detecting Genetic Disorders. Amniocentesis Chorionic villus sampling Karyotype Triple Screen Blood Test

APERT SYNDROME WITH PARTIAL POLYSYNDACTYLY: A PROPOSAL ON THE CLASSIFICATION OF ACROCEPHALOSYNDACTYLY

Transcription:

Arabian Gulf University Kingdom of Bahrain Year 5 Pediatrics 2 nd Week Dr. Zakariya Al-Akri Common and Uncommon Conditions - Case (1): sunset eye appearance which occurs with increased intracranial pressure in hydrocephalus. - Case (2): the head is asymmetric with an occipital bulge (wither on the right or left sides) because the baby is usually kept on his back on one side skull bones are still soft with no closed sutures therefore, this will produce what is known as positional plagiocephaly. This condition is managed by keeping the baby on the other side. - Case (3): a bulge in the right side above the parietal bone is noticed. This bleeding is subperiosteal and not crossing the sutures of the skull and known as cephalohematoma. Edema is differentiated from cephalohematoma in that it is subcutaneous and crosses the sutures of the skull. - Case (4): pectus carinatum (pigeon chest) is a chest deformity which can be caused by chronic respiratory diseases, masses in the chest, cardiomegaly or fractures.

- Case (5): pectus excavatum is a chest deformity caused by increased thoracic negative pressure and associated with chronic respiratory diseases. - Case (6): Eye features of Down s syndrome (trisomy 21): Epicanthal skin fold. Brushfield spots. Upslanting palpebral fissures - Case (7): the image below shows a surgically repaired cleft lip which can be isolated or associated with other genetic disease (such as trisomies 13 and 18). Cleft lip can be associated with cleft palate. It can occur on one sides or two sides (bilateral). - Case (8): adenoid facies is associated with chronic respiratory obstruction. The child will be snoring and opening his mouth while sleeping. - Case (9): the image on the left shows an infant with facial nerve palsy (right side) which affects half of the face while the image on the right shows absence of depressor anguli oris muscle (only affecting the mouth).

- Case (10): polydactyli (a condition in which the person has more than five fingers or toes on one, or on each, hand or foot). This extra finger or toe can be attached by skin (thus can be tied and cut-off) or a joint (more difficult to treat and sometimes kept without intervention). - Case (11): rachitic rosary enlargement of costochondral joint due to vitamin-d deficiency (rickets). - Case (12): the image below shows umbilical hernia which is more common in blacks. In 95% of the cases, it disappears spontaneously within 1 year of age without intervention. Large umbilical hernia might remain more than 4 years (in these cases, it will be surgically corrected). - Case (13): Dennie-Morgan folds (left image) and allergic shiners (right image) are both signs of atopy (allergic hypersensitivity reaction). - Case (14): allergic salute is a transverse crease on the nose seen in patients with allergic rhinitis.

- Case (15): chipmunks facies is seen in patient with β-thalassemia major in which there is total absence of β-globin chains or deficient β-globin chain production. Thalassemia facies is characterized by frontal bossing, maxillary hyperplasia, prominent cheekbones and skull deformities. These patients have absent HbA, elevated HbF and they are managed with lifelong blood transfusions. - Case (16): myotonic dystrophy skin is smooth with no creases and the upper lip is tented. - Case (17): the image blow shows congenital glaucoma in the left eye. There is an obstruction of eye drainage which is painful. The baby is always crying, the iris is large, and if the condition is kept for a long time without intervention this will result in blindness. - Case (18): a child with peri-orbital edema (occurring due to hypoalbuminemia) which is associated with nephritic syndrome. - Case (19): anaphylaxis (type-i hypersensitivity reaction) which can be caused be food, medications of insect bites.

- Case (20): heterochromia iridum (difference in coloration of the iris) which can affect the whole eye or part of it. It can be congenital (autosomal dominant) or acquired (e.g. injury, inflammation, use of certain eyedrops that damage the iris or tumors). - Case (21): koilonychia (spoon-shaped nails) is a characteristic sign of iron-deficiency anemia (microcytic hypochromic anemia; Hb; MCV below 80). - Case (22): spina bifida occulta is the mildest form results in a small separation or gap in one or more of the bones (vertebrae) of the spine. Because the spinal nerves usually aren't involved, most children with this form of spina bifida have no signs or symptoms and experience no neurological problems. Visible indications of spina bifida occulta can sometimes be seen on the newborn's skin above the spinal defect, including: An abnormal tuft of hair (seen in the image). A collection of fat A small dimple or birthmark - Case (23): colobomas of the eye (absence or defect of ocular tissue), usually of the retina. Impaired vision is very common. It is found with CHARGE association: C: Colobomas. H: Heart defect. A: Atresia of nasal choanae. R: Retardation. G: Genital anomalies. E: Ear anomalies.

- Case (24): Erb s palsy is caused by injury to the upper trunk of brachial plexus and results in waiter s tip hand that is seen in the image below. Injury to brachial plexus most commonly arise from shoulder dystocia during a difficult birth. - Case (25): Turner syndrome (monosomy X) is characterized by: Shield chest with widely-spaced nipples. Short stature. Webbed neck. Under-developed ovaries. Coartication of the aorta.