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

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1 Courtney Grassham, NNP BC Objectives 1. Identify abnormal physical findings on exam 2. Identify abnormal x ray findings 3. Identify common characteristics associated with different Syndromes. VACTERL Association Vertebral Anomalies Anal Atresia Cardiac anomalies TE Fistula Renal Limb Anomalies Hydrocephalus 1

Aplastic Radius Can be associated with thrombocytopenia

Diaphragmatic Hernia 50% Mortality Can be left or right

Tetralogy of Fallot Hypoplastic Left Heart ASD/VSD Neural

Most due to maternal non disjunction Congenital Heart

fissures Epicanthal folds Brushfield spots Low set ears

2 Aplastic Radius Can be associated with thrombocytopenia TAR syndrome Usually bilateral Normal thumb Congenital Diaphragmatic Hernia 50% Mortality Can be left or right sided Other associated anomalies occur in 25 50% Tetralogy of Fallot Hypoplastic Left Heart ASD/VSD Neural tube defects Trisomy 13, 18, 21 Fryn Syndrome Trisomy 21 Most due to maternal non disjunction Congenital Heart Disease AV Canal Defect or VSD Upslanting palpebral fissures Epicanthal folds Brushfield spots Low set ears Protruding Tongue Flat nasal bridge Hirschprungs Duodenal Atresia Imperforate Anus 2

Monosomy X Turner s 98 99% affected fetuses are spontaneously aborted Epicanthal

Excess nuchal skin Webbed Neck Shield Chest Wide spaced nipples Hypoplastic nails

Horseshoe kidney Gonadal dysgenesis Duodenal Atresia 30% of cases of duodenal atresia

Dwarfism Most common lethal skeletal dysplasia in infancy Rhizomelia Disproportion in

3 Monosomy X Turner s 98 99% affected fetuses are spontaneously aborted Epicanthal folds Micronathia Low posterior hair line. Excess nuchal skin Webbed Neck Shield Chest Wide spaced nipples Hypoplastic nails Peripheral Lymphedema Congenital Heart Defects Coarctation, bicuspid aortic valve Horseshoe kidney Gonadal dysgenesis Duodenal Atresia 30% of cases of duodenal atresia are associated with Trisomy 21 Associated with polyhydraminos in utero Thanatophoric Dwarfism Most common lethal skeletal dysplasia in infancy Rhizomelia Disproportion in the length of the most proximal segment of the limbs Narrow thorax Normal trunk length Macrocephaly Polyhydraminos complicated pregnancy 3

Oomphalocele Associated with other midline

common associated anomaly Cryptorchidism in

span is 48 days Characteristic hand position

small mouth Short sternum Umbilical hernia

4 Oomphalocele Associated with other midline defects Associated with chromosomal defects Consider Beckwith Weideman Syndrome Oomphalocele, Macroglossia, Hypoglycemia Most common associated anomaly Cryptorchidism in males that resolves with closure Giant oomphalocele Involvement of liver Gastroschisis Trisomy 18 Edward Average life span is 48 days Characteristic hand position Rocker bottom feet Low set ears Micrognathia, small mouth Short sternum Umbilical hernia SGA Congenital Heart Defects VSD, ASD, PDA Horseshoe kidney Umbilical/Inguinal hernia 4

Trisomy 13 Patau Avg life expectancy 130 days

left/palate Redundant nuchal skin Overlapping/flexed

Heart Disease VSD, ASD, PDA Renal Anomalies Polycystic

Single umbilical artery Cornelia De Lange Syndrome Short

Micromelia Hypoplastic nipples Hypoplastic umbilicus

Depressed Nasal Bridge Low set ears Micrognathia High

Anteverted Nares Long philtrum Short neck Apert Syndrome

asymmetric face Maxillary hypoplasia Cardiovascular ASD,

5 Trisomy 13 Patau Avg life expectancy 130 days Microcephaly Cutis aplasia of scalp Microphthalmia Cleft left/palate Redundant nuchal skin Overlapping/flexed fingers Post axial polydactyly Hypotelorism Congenital Heart Disease VSD, ASD, PDA Renal Anomalies Polycystic kidneys Hydronephrosis Hydroureters Holoprosencephaly Single umbilical artery Cornelia De Lange Syndrome Short Stature Microcephaly Hirsutism Cutis marmorata Micromelia Hypoplastic nipples Hypoplastic umbilicus Long curly eyelashes Low anterior/posterior hairline Depressed Nasal Bridge Low set ears Micrognathia High arched palate Underdeveloped orbital arches Thin Lip Anteverted Nares Long philtrum Short neck Apert Syndrome Autosomal dominant Craniosynostosis Flattened often, asymmetric face Maxillary hypoplasia Cardiovascular ASD, PDA, VSD Syndactyly Brachydactyly Congenital cervical spine fusion Tracheal cartilage anomalies Rhizomleia 5

Treacher Collins down slanting eyes notched lower eyelids (coloboma)

Forward hair in the sideburn area High arched palate Microtia,

palate Cleft Palate Beak like nose Noonan Syndrome Low posterior

Low set ears Down slanting palpebral fissures Epicanthal folds High

risk for pulmonary hypoplasia Evaluate for GU/Renal anomalies May have

6 Treacher Collins down slanting eyes notched lower eyelids (coloboma) Hypoplastic/absent cheekbones Mandibular hypoplasia, micrognathia Forward hair in the sideburn area High arched palate Microtia, malformed, malposition of ears Conductive hearing loss High arched palate Cleft Palate Beak like nose Noonan Syndrome Low posterior hairline Cystic hygroma ASD, VSD, Pulmonic stenosis Shield Chest Pectus Low set ears Down slanting palpebral fissures Epicanthal folds High arched palates Micrognathia Prune Belly Eagle Barrett Syndrome Increased risk for pulmonary hypoplasia Evaluate for GU/Renal anomalies May have prenatal intervention (vesicoamniotic shunt) to diminish lung hypolasia Bilateral Renal Agenesis Potter s Sequence 6

7 Ectropion Pierre Robin/ Retrognathia Beckwith Weideman Syndrome Macrosomia Macroglossia Hemihypertrophy Abdominal wall defect Severe hypoglycemia Amniotic Band Disruption entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero estimated to occur in anywhere from 1 in 1,200 to 15,000 live births. No gender or ethnic predispositions have been identified with amniotic band syndrome. 7

8 NEC Necrotizing enterocolitis Pneumothorax 8

9 Incontinentia pigmenti X linked dominant Lethal to males in utero Extramedullary Hematopoeisis AKA: Blueberry muffin rash Assoc with congenital rubella or CMV Hearing loss, cataracts, retinitis PDA in congenital rubella Epidermolysis bullosa 9

22q11 Deletion Syndrome AKA DiGeorge, Velo

aspiration, nasal speech Coloboma CHARGE

Ear anomalies deafness Can be associated

10 22q11 Deletion Syndrome AKA DiGeorge, Velo cardiofacial syndrome Most common microdeletion Cardiac disease Any most common coarctation Renal anomaly Optho problems Learning disability Immunodeficiency Palatal insufficiency aspiration, nasal speech Coloboma CHARGE Syndrome Coloboma (usually retinal) Heart Defects Atresia Choanae Retardation of growth and development Genital hypoplasia Ear anomalies deafness Can be associated with Trisomy 13 Can be familial Differentiate from scalp trauma Cutis Aplasia Harlequin Icthyosis Navajo type lethal? Autosomal Recessive Derm consult Retin A topical cream 10

Meningomylocele Goldenhaar Micrognathia Macrostomia (a

Accessory preauricular tags and pits (seen along a line

A partially formed or totally absent ear (microtia)

growths of the eye or missing eye Believed to be due to

kidneys with renal ultrasound If polycystic?

11 Meningomylocele Goldenhaar Micrognathia Macrostomia (a lateral cleft like extension of the corner of the mouth) Accessory preauricular tags and pits (seen along a line from the tragus of the ear to the corner of the mouth). A partially formed or totally absent ear (microtia) Usually unilateral involvment Vertebral anomalies Benign growths of the eye or missing eye Believed to be due to environmental factors Occipital encephalocele Check kidneys with renal ultrasound If polycystic? Meckel Gruber Syndrome Polydactyly, ambiguous genitalia Autosomal recessive 11

day 13 and 15 after fertilization Twinning

Craniopagus/2%/Brain Nevus flammeus Also

malformation Usually unilateral Most common

12 The picture can't be displayed. Conjoined Twins Believed to occur between day 13 and 15 after fertilization Twinning Categorized by joining site. Thoracopagus/40%/Heart, liver, GI Omphalopagus/34%/Liver, GI Pygopagus/18%/Spine, GU, lower GI Ischiopagus/6%/Pelvis, GU, GI, liver Craniopagus/2%/Brain Nevus flammeus Also called port wine stain Vascular malformation Usually unilateral Most common in head and neck If localized to area of trigeminal nerve Sturge Weber Syndrome Also associated with Klippel Trenaunay syndrome 12

13 Hydrocephalus Congenital Aqueductal Stenosis TORCH Infections Chiari Malformation Dandy Walker Acquired Post hemorrhagic Post Intracranial infection Post subdural/subarachnoid hemorrhage 13

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

Bench to Bassinet Pediatric Cardiac Genomics Consortium: CHD GENES Form 105: Congenital Extracardiac Findings Version: B - 11/01/2010 SECTION A: ADMINISTRATIVE INFORMATION A1. Study Identification Number: