Paediatric- History taking & physical examination of a patient with dysmorphic features

Paediatric- History taking & physical examination of a patient with dysmorphic featuresCreated OnApril 22, 2020Last Updated OnApril 22, 2020byadmin You are here: Main Clinical Examination Paediatric- History taking & physical examination of a patient with dysmorphic features < All Topics Table of Contents History taking: Ask about patient’s information – name, age, gender and etc Ask about the chief complaint and relevant history of presenting illness Ask about systemic review Ask about antenatal and birth histories Maternal age during pregnancy Increased maternal age associated with increased risk of non-disjunction leading to trisomies Advanced paternal age associated with higher risk of new mutation leading to an autosomal dominant trait Small for gestational age Chromosomal anomaly or exposure to teratogens Large for gestational age Maternal diabetes Overgrowth syndrome, such as Beckwith-Wiedemann syndrome Duration of gestation Extreme prematurity – may lead to intellectual disabilities and other child’s problems Post-maturity – associated with some chromosome anomalies (e.g., trisomy 18) and anencephaly Amount of amniotic fluid Increased amount – associated with intestinal obstruction or a central nervous system anomaly leading to poor swallowing Decreased amount – maybe due to a chronic amniotic fluid leak or suggesting a urinary tract abnormality resulting in failed urine production Maternal medical problems – Type 1 diabetes mellitus, infections Exposures to teratogens – medications, drugs, cigarette smoking, alcohol use, radiation, chemicals Results of pre-natal testing including ultrasound examinations Ask about past medical and surgical histories Ask about drug history Ask about nutrition or feeding history Ask about family history Construct a pedigree comprising at least three generations Search for similar or dissimilar abnormalities in 1st and 2nd degree relatives Document any neonatal or pregnancy loss Consanguinity – increases the incidence of autosomal recessive disorders Physical examination: Growth assessment Measure the height or length, weight and head circumference, and plot the appropriate growth charts Small size or growth restriction, due to: Chromosomal abnormality Skeletal dysplasia Exposure to toxic or teratogens Larger than expected size, due to: Maternal diabetes Overgrowth syndrome such as Soto or Beckwith-Wiedemann syndrome Assess if the limbs, trunk and head are in proportion Limbs are too short for the trunk and head Short-limbed bone dysplasia – achondroplasia Trunk and head are too short for the limbs Vertebral disorder – spondyloepiphyseal dysplasia General examination Cranium size and appearance Microcephaly Chromosomal and single gene disorders Foetal to infections such as toxoplasmosis, rubella, Zika virus Macrocephaly Fragile X syndrome Achondroplasia Neurofibromatosis type 1 Brachycephaly (short and wide) – craniosynostosis syndrome such as Crouzon syndrome Plagiocephaly (asymmetric/lopsided) – craniosynostosis syndrome Dolichocephaly (long & thin) – craniosynostosis syndrome Cranial facial profile – divide into 4 regions Forehead overt prominence – achondroplasia deficient/sloping appearance – primary microcephaly Midface (extends from the eyebrows to the upper lips and from the outer canthi of the eyes to the mouth commissures) Retrusion or hypoplasia Down syndrome Collagen disorders such as Stickler syndrome Eyes Distance between eyes Assess the inner canthal distance and interpupillary distance Hypotelorism (narrow spacing between eyes) Holoprosencephaly Trisomy 13 Hypertelorism (wide spacing between eyes) Cri-du-chat syndrome Wolff-Hirschhorn syndrome Features of palpebral fissures Short – foetal alcohol syndrome Excessively long – Kabuki makeup syndrome (short stature, mental retardation, long palpebral fissures with eversion of lateral portion of lower lid) Upward slanting – Down syndrome Downward slanting – Treacher Collins syndrome Prominent epicanthic folds – Down syndrome and foetal alcohol syndrome Extraocular movement abnormalities Ophthalmoplegia – mitochondrial disorders Esotropia – Angelman syndrome, Down syndrome Exotropia – Angelman syndrome, Down syndrome Nystagmus – Septo-optic dysplasia Ptosis – Smith-Lemli-Opitz syndrome, Kearns-Sayre syndrome Nose Flattened nasal bridge – Down syndrome, foetal alcohol syndrome Prominent nasal bridge – velocardiofacial syndrome Prominent and bulbous tip – DiGeorge syndrome Split appearance – frontonasal dysplasia Anteverted nares – Cornelia de Lange syndrome, Smith-Lemli-Opitz syndrome Philtrum Length long – Williams syndrome short – DiGeorge syndrome, Cohen syndrome, Oral-facial-digital syndrome, Chromosome 18q deletion syndrome Smooth philtrum – foetal alcohol syndrome Malar region (extends from the ear to the midface) Ears – assess the size, shape, position, orientation Microtia – Goldenhar syndrome, Treacher Collins syndrome, retinoic acid foetal exposure Low-set ears (below a line drawn from the outer canthus to the occiput) Down syndrome Turner syndrome Malformed, posteriorly rotated and low-set ear Trisomy 13 Trisomy 18 Treacher Collins syndrome Beckwith-Wiedemann syndrome Smith-Lemli-Opitz syndrome Mandibular region (extends from the lower portion of the ears bounded out to the chin by the mandible) Examine the chin Draw a vertical line from the forehead to the philtrum Most newborns’ chins are slightly behind the vertical line or slightly retruded Pronounced chin retrusion – Pierre Robin malformation sequence Examine the mouth and oral cavity Size of the mouth Macrostomia – Angelman syndrome, oculo-auriculo-vertebral spectrum Microstomia – trisomy 18 Teeth Widely spaced teeth – Angelman syndrome Dental decay, enamel hypoplasia – dentinogenesis imperfecta, osteogenesis imperfecta Tongue Protrusion due to macroglossia – Beckwith-Wiedamann syndrome, Pompe disease Thrusting due to poor orofacial muscular tone – Down syndrome Palate and uvula High arched palate – Marfan syndrome Cleft uvula – DiGeorge syndrome, Loeys-Dietz syndrome Neck Webbed – Turner and Noonan syndromes Shortened – Down syndrome, skeletal dysplasia, cervical spine anomalies Assess the size of the thyroid and position of the posterior hairline Trunk Chest Shape Shield-like chest – Noonan syndrome and Turner syndrome Pectus carinatum – Marfan syndrome Pectus excavatum – Noonan syndrome Wide-spaced nipple Down syndrome, Turner syndrome, Noonan syndrome Assess the symmetry Spine Thoracolumbar scoliosis Marfan syndrome Skeletal dysplasia Neurofibromatosis type 1 Vertebral segmentation defects Alagille syndrome MURCS association VACTERL association Look for any deep sacral dimple, sacral hair tufting and sacral tag Abdomen Hepatomegaly with or without splenomegaly Glycogen storage disorders Gaucher disease Niemann-Pick syndrome Extremities Examine all joints Limited range of motion Arthrogryposis Storage disorders such as Hurler syndrome Presence of single or multiple joint contractures Intrinsic muscular dystrophy such as muscular dystrophy Limited motion of the joint in the utero Arthrogryposis multiplex congenital Inability to pronate or supinate the elbow (radioulnar synostosis) Foetal alcohol spectrum disorder X chromosome aneuploidy syndromes Examine the hands and feet Polydactyly (supernumerary fingers or toes) Single gene defects – Carpenter syndrome, Bardet-Biedl syndrome Trisomy 13 syndrome Oligodactyly (a deficiency in the number of digits) Fanconi syndrome Syndactyly (fusion of 2 or more fingers or toes) Smith-Lemli Opitz syndrome Apert syndrome Creig cephalopolysyndactyly syndrome Brachydactyly (short fingers or toes) 2q37 deletion syndrome Arachnodactyly (long and slender fingers or toes) Marfan syndrome Broad thumbs and toes Rubinstein-Taybi syndrome Saethre-Chotzen syndrome Clubfoot Potter syndrome Deformation sequence Distal arthrogryposes Dermatoglyphics (skin markings or patterns) Palmar crease patterns Transverse palmar crease or Simian crease (indicates hypotonia) – Down syndrome Hockey-stick crease – foetal alcohol syndrome Decreased creases – foetal hypokinesia Skin pigmentations Hyperpigmentation – somatic mosaicism Hypopigmentation – tuberous sclerosis...

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