1. Pediatrics syndromes with eye manifestations
DR. Maisa Mohammed Alsweilem
Consultant Ophthalmology
MD, FRCS, ABO, KKESH fellow
Medical Director PABMH

2. Contents
Normal infant examination red flags syndromes with eye manifestations take home massages
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

3. Infant Eye Examination
Normal Eye findings following delivery
Red reflex
Hold ophthalmoscope 6-8” from eye.
Should transmit a clear red color back.
Equal pupil size and reactivity to light
Absence of tears
Blinking reflex is present in response to touch
Can not follow an object (Rudimentary fixation on objects).
Retinal or Subconjunctival Hemorrhages
Common after vaginal delivery
Clears spontaneously in 1-2 weeks
Lid edema
Force applied to open the eye often results in lid eversion
Examination should be postponed until the edema resolves
Eye Color
Gray color, Permanent eye color usually not attained until age 6 months
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

4. Dysconjugate Eye Movements
Eyelid Edema
Dysconjugate Eye Movements
Congenital Cataracts
Congenital Glaucoma
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

5. Absent Red reflexes What does it mean? Retinal and vitreous diseases
Should be referred to an ophthalmologist early
Normal
Red reflex absent
Red reflex abnormal
Congenital Cataracts
Optimal time for surgery is 4 – 6 weeks
Should be referred to an ophthalmologist early

6. Infant Eye Examination
Retinal or Subconjunctival Hemorrhages
Common after vaginal delivery
Clears spontaneously in 1-2 weeks
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

7. Eye Examination Abnormal Funduscopic Exam
Eye Examination
Abnormal Funduscopic Exam
Lens opacity
Indicates congenital cataract
Associated with TORCH Virus infection
If monocular or dense cataract, newborn is at risk for developing amblyopia.
Leukocoria (White reflex or Cat’s eye reflex)
Suggests lens, vitreous or fundus abnormality
Evaluate for Retinoblastoma
Requires Opthalmologic Referral

8. Eye Examination Coloboma (ocular tissue defect)
Eye Examination
Coloboma (ocular tissue defect)
Eyelid margin defect: Treacher Collins Syndrome
Aniridia (absent iris)
Usually occurs bilaterally
Associated with poor visual acuity and nystagmus
Iris and retina defect: CHARGE association
Coloboma
Heart disease
Choanal Atresia
Postnatal growth retardation
Genital hypoplasia
Ear Abnormality
Requires Opthalmologic Referral

9. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

10. syndromes with eye manifestations
CHARGE Syndrome
Treacher-Collins Syndrome (Mandibulofacial dysostosis)
Apert (acrocephalosyndactyly)
Crouzon Syndrome (Craniofacial Dysostosis)
Down Syndrome (Trisomy 21)
Goldenhar Syndrome (Oculoauriculovertebral spectrum)
Noonan Syndrome
Stickler Syndrome
Usher Syndrome
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

11. syndromes with eye manifestations
Velocardiofacial Syndrome (Shprintzen Syndrome)
Waardenberg Syndrome
Neurofibromatosis 1 (Von Reklinghausen Disease)
Neurofibromatosis 2
Sturge-Weber Syndrome (Encephelotrigeminal angiomatosis)
Pfeiffer’s syndrome
Harlequin Syndrome
Moebius Syndrome (Congenital Facial Diplegia)
Maffucci syndrome
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

12. syndromes with eye manifestations
Kasabach-Merritt syndrome
Melkersen-Rosenthal Syndrome (Chelitis Granulomatosa)
Cri-du-chat (cat's cry) syndrome
Cat Eye Syndrome / Schmid Fraccaro Syndrome chromosome 22
Tuner syndrome
Ring-D chromosome
Lowe Syndrome
Monosomy-G syndrome
Albinism
Trisomy 13 Patau
Trisomy 18 Edward
Axenfled-Rieger syndrome 
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

13. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

14. CHARGE Syndrome Autosomal Dominant
Due to a mutation in DNA-binding protein-7 (CHD7) gene
Coloboma- posterior chamber(80%)
Heart anomalies (85%)
Atresia of choana (57%)
Retardation- growth(80%) & mental (70%)
Genital defects (in males)
Ear anomalies (90-100%) & deafness(62%)
Usually bilat and mixed hearing loss
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

15. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

16. Treacher-Collins Syndrome (Mandibulofacial dysostosis)
Autosomal dominant, 40% will have family history, other 60% new mutations
TCOF1 gene found on chromosome 5q (TREACLE gene)
Malformation of 1st (& 2nd) branchial arches
Otologic: Malformed ossicles, auricular deformity, aural atresia, CHL present 30% of time, occasional SNHL
50% will have hearing impairment from EAC and/or middle ear malformations
Preauricular fistulas, mandibular and malar hypoplasia, antimongoloid palpebral fissures, coloboma of the lower eyelids, may have cleft lip and palate, normal IQ
. Zygomatic and mandibular hypoplasia, lower lid colobomas, and downslanting palpebral fissures.
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

17. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

18. Apert (acrocephalosyndactyly)
Autosomal dominant, most cases due to spontaneous mutation
Due to a mutation of FGFR-2 (Fibroblast Growth Factor Receptor) gene (10q26)
Common findings:
Craniosynostosis (pre-mature fusion of the cranial sutures)
Severe symmetrical syndactyly
Low-set ears
Cognitive function normal to severe mental retardation
Eyes: down-slanting palpebrael fissures, Hypertelorism, Exophthalmos
Midface hypoplasia
Mandibular prognathism
Possible cleft palate
Nose: Parrot-beaked nose, possible Choanal Atresia
Syndactyly and cervical fusion
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

19. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

20. Crouzon Syndrome (Craniofacial Dysostosis)
Autosomal dominant, 50% due to spontaneous mutations, complete penetrance, variable expresivity
Due to mutation of FGFR-2 (Fibroblast Growth Factor Receptor) gene (10q26)
Common findings:
Craniosynostosis (pre-mature fusion of the cranial sutures)
Hypertelorism
Exophthalmos
Midface hypoplasia
Mandibular prognathism
Parrot-beaked nose
No Syndactyly or cervical fusion
Cognitive function normal to severe mental retardation
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

21. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

22. Down Syndrome (Trisomy 21)
Craniofacial Features:
Brachycephaly
Flat occiput
Abnormal small ears
Upslanting palpebral fissures
Epicanthic folds
Short small nose
Midface hypoplasia
Large fissured lips
Large fissured tongue
Dental abnormalities
Short neck
Atlantoaxial subluxation & instability
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

23. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

24. Goldenhar Syndrome (Oculoauriculovertebral spectrum)
Characterized by unilateral facial asymmetry, unilateral external & middle ear changes, vertebral malformations
Ocular findings: upper lid colobomata
Otologic findings: mildly deformed ears to anotia, EAC atresia, ossicular abnormalities
Underdevelopment of mandible, orbit, facial muscles, also may have hemivertebrae of vertebral column
Hemifacial macrosomia often placed in this category
Most cases sporadic, some autosomal dominant reported
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

25. Goldenhar Syndrome (Oculoauriculovertebral spectrum)
Goldenhar syndrome. This 5-year-old boy has facial asymmetry and right microtia.
Reference: Bailey’s Otolaryngology-Head & Neck Surgery
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

26. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

27. Noonan Syndrome
Originally thought to be a variant of Turner Syndrome- used to be referred to as “male version of Turner Syndrome”
Autosomal Dominant
PTPN11 gene (12q24)
Clinical Findings:
Growth Development: 80% have short stature
Facial Features:
Triangular face, hypertelorism, down-slanting eyes, ptosis, strabismus (48%), amblyopia (33%), refractive errors (61%), low-set ears with thickened helices, high nasal bridge, short webbed neck.
Otologic Features: progressive HF-SNHL in up to 50%
Chest/Back Features: pectus carinatum/excavatum, scoliosis
Cardiac Features: pulm valve stenosis common, possibly any defect
Abdominal Features: hepatosplenomegaly (25%)
Genitourinary Features: renal anomalies (10%), undescended testes (50%)
Skeletal Features: bleeding diasthesis,joint laxity (50%), radioulnar synostosis, cervical spine fusion
Skin Findings: lymphedema, prominent pads fingers and toes (67%), follicular keratosis of face and extensor surfaces (14%)
Neurologic Features: hypotonia, Sz disorder (13%)
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

28. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

29. Stickler Syndrome
Autosomal dominant, mutation of COL2A1 gene on chromosome 12
responsible for type II collagen gene
COL2A1: typically mild and not significantly progressive hearing loss
COL11A1: more severe hearing loss
COL11A2: non-ocular Stickler syndrome, hearing like COL11A1
Small jaw with Robin sequence & cleft palate
Myopia with retinal detachment & cataracts
Hypermobility & enlarged joints, early onset arthritis, occ. spondyloepiphyseal dysplasia
SNHL or mixed HL in 80%, educationally significant in 15%
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

30. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

31. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

32. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

33. Usher Syndrome Autosomal recessive, 10% of hereditary deafness
Retinitis pigmentosa causing progressive visual loss.
Patients born deaf secondary to atrophy of organ of Corti.
Ataxia and vestibular dysfunction common
Eye changes detected on electroretinography even before funduscopic changes identified; ophthalmology consult essential
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

34. Usher Syndrome Four main types:
Type I: profound congenital deafness, RP onset by age 10, no vestibular response; 90% of Ushers
Type II: moderate/severe congenital deafness, onset of RP in teens/twenties, normal or decreased vestibular response, 10% of all cases
Type III: progressive HL, RP begins in puberty, <1% of cases
Type IV: X-linked inheritance, similar to type II
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

35. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

36. Velocardiofacial Syndrome (Shprintzen Syndrome)
Autosomal dominant, characterized by abnormal facies, VPI, CLP, and cardiac anomalies
Hemizygous microdeletion of 22q11
Almond shaped palpebral fissures, deficient nasal alae, tubuar nose with bulbous tip, small mouth
Long face with vertical maxillary excess, malar flatness, mandibular retrusion
Palatal clefting ranges from submucus clefting to overt wide cleft palate with hypernasality
Cardiac anomalies in 80%, most commonly VSD; other anomalies include right sided aortic arch, tetralogy of Fallot, aortic valve disease
Medial displacement of ICA’s present in up to 25% of patients
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

37. Velocardiofacial Syndrome (Shprintzen Syndrome)
Figure Velocardiofacial syndrome. Broad nose, triangular face, palatal incompetence.
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

38. Waardenberg Syndrome
Defined by the presence (type I) or absence (type II) of dystopia canthorum; SNHL occurs in 20% in Type I, 50% in Type II
Autosomal dominant
Type I gene locus PAX3 on chromosome 2
Type II gene locus MITF (microphthalmia transcription factor) on chromosome 3 (20% of cases)
Clinical findings
Pigment abnormalities: white forelock, premature graying, vitiligo, heterochromia iridis
Craniofacial abnormalities (dystopia canthorum, broad nasal root, synophrys)
Unilateral or bilateral SNHL
Klein-Waardenburg (Type III): features of WS1 plus blue eyes, hearing impairment, upper limb skeletal dysplasias, muscular hypotonia
Waardenburg-Shah (Type IV): phenotype similar to WS2 plus Hirschprung megacolon; AR
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

39. Waardenberg Syndrome
Type I: Dystopia canthorum present; this condition is 20 times more common than type II.
Type II: Dystopia canthorum not present; hearing loss is more common in this type (50%) as well as pigmentary disorders.
Type III: Klein-Waardenburg syndrome or pseudo-Waardenburg, no dystopia canthorum but with one-sided ptosis of the upper eyelid and upper limb anomalies.
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

40. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

41. Neurofibromatosis 1 (Von Reklinghausen Disease)
Diagnostic criteria includes 2 or more of the following:
Six or more café au lait macules larger than 5 mm in the greatest diameter in prepubertal children and larger than 1.5 cm in postpubertal individuals
Two or more neurofibromas of any type or 1 plexiform neurofibroma
Multiple freckles (Crowe sign) in the axillary or inguinal region
A distinctive osseous lesion, such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis
Optic glioma
Two or more iris hamartomas (Lisch nodules) seen on slitlamp or biomicroscopy examination
A first-degree relative (parent, sibling, offspring) with same disease, as diagnosed by using the above criteria.
Mental retardation, learning disabilities, and speech defects are not uncommon
Autosomal dominant. NF1 gene location is in the 17q11.2 region. Fresh mutations represent about 50% of cases
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

42. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

43. Neurofibromatosis 2
Autosomal dominant, with 95% penetrance and linkage to 22q11- q13. The gene has been isolated, and encodes a protein named merlin
Diagnostic criteria include the following:
Bilateral acoustic neuroma seen with CT or MRI or
A first-degree relative with the disease and either unilateral 8th nerve mass, or two of the following:
neurofibroma
meningioma
glioma
schwannoma
juvenile posterior subcapsular lenticular opacity
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

44. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

45. Sturge-Weber Syndrome (Encephelotrigeminal angiomatosis)
Present at birth with seizure and large port-wine birthmark on side of face
Capillary malformation of the ophthalmic division of the trigeminal nerve.
Refractory glaucoma
Associated with vascular malformations of the leptomeninges, leads to ischemic atrophy and cortical calcification
Clinically causes seizures, focal neurologic deficits, developmental delay
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

46. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

47. Pfeiffer’s syndrome
Similar to Apert Syndrome but have digital broadening rather than syndactyly
Eyes: down-slanting palpebrael fissures, Hypertelorism, Exophthalmos
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

48. Harlequin Syndrome
Severe ichthiosis syndrome ( general skin involvement including lids)
Also known as Ichtheosis Fetalis
Autosomal Recessive
Mutation in the lipid-transporter gene ABCA12 on chromosome 2.
Ears: The pinnae may be small and rudimentary or absent.
Nose: Nasal hypoplasia and eroded nasal alae may occur.
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

49. Moebius Syndrome (Congenital Facial Diplegia)
Expressionless Face
absence or underdevelopment of the 6th and 7th cranial nerves
First symptom, present at birth, is an inability to suck.
Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression;; eye sensitivity; motor delays; high or cleft palate; hearing problems; and speech difficulties.
Small or absent brain stem nuclei that control the cranial nerves, as well as decreased numbers of muscle fibers, have been reported.
Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur. As children get older, lack of facial expression and inability to smile become the dominant visible symptoms.
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

50. Mobius Syndrome (Congenital Facial Diplegia)
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

51. Axenfled-Rieger syndrome
Maffucci syndrome
Multiple cavernous hemangiomas
Dyschondroplasia & shortening and deformity of involved bones
Occasional visceral vascular lesions
25% incidence of chondrosarcoma
Axenfled-Rieger syndrome
 autosomal dominant,  posterior embryotoxon, iris atrophy, correctopia, and ectropion uveae with glaucoma.
Systemic findings include mild craniofacial dysmorphism, dental and cardiovascular abnormalities, and redundant umbilical skin.
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

52. Kasabach-Merritt syndrome
Up till recently associated with hemangioma; skin lesion with red/brown discoloration that suddenly enlarges into a violaceous plaque
Characterized by platelet sequestration, ecchymosis, no female predominance
Histologic lesion: a tufted angioma or kaposiform hemangioendothelioma
Management supportive; heparin contraindicated, use of blood products avoided because of increased trapping within lesion; anemia treated with PRBC’s
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

53. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

54. Melkersen-Rosenthal Syndrome (Chelitis Granulomatosa)
Most cases of sporadic. Familial occurrences suggest an autosomal dominant transmission
Recurrent or persistent lip swelling, facial swelling, facial palsy and furrowed tongue
Swelling of the lips is usually of sudden onset, unilateral, or bilateral. The upper lip is affected in most cases and may remain swollen permanently. This occurs in 75% of patients.
Histologically the swollen tissues exhibit chronic granulomatous changes similar to sarcoidosis or tuberculosis
Auditory and visual disturbances, swelling in the hands and chest, blepharospasm, epiphora, and megacolon may be seen.
The disease begins in childhood or early adulthood.
It is considered a local immune response and vasomotor disturbance affecting the vasa vasorum of the vessels supplying the facial nerve and neighboring structures
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

55. 23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

56. Cri-du chat syndrome
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome.
intellectual disability and delayed development,
small head size (microcephaly),
low birth weight,
weak muscle tone (hypotonia).
distinctive facial features, including widely set eyes (hypertelorism),
low-set ears, a small jaw, and a rounded face.
heart defect
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

57. Cat Eye Syndrome / Schmid Fraccaro Syndrome chromosome 22
 Coloboma of the iris (giving the appearance of a vertical pupil, hence the name "cat eye"),
atresia of the anus,
preauricular tags or fistulae,
congenital cardiovascular abnormalities,
urinary tract anomalies,
mild reduced growth rate. Mental retardation
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

58. Turner's syndrome females. shorter than average
absence of ovarian function
extra skin on the neck (webbed neck),
puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities,
heart defects and kidney problems.
Turner syndrome is a chromosomal condition related to the X chromosome.
strabismus
 ptosis, hypertelorism, epicanthus, and antimongoloid slants. Red-green color deficiency.
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

59. Monosomy-G syndrome Hypertelorism
Ring-D chromosome:
 marked mental retardation, retinoblastoma, microcephaly, craniofacial dysmorphia and physical malformations.
Lowe's syndrome
cataracts in both eyes, Glaucoma is present in about 50% 
Monosomy-G syndrome Hypertelorism
Albinism: defect in one of the chromosomes 9,11,15 or x- chrom lead to photophobia, reduced visual acuity, and involuntary eye twitching, nystagmus. translucent iris
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

60. Trisomy 13 (Patau's syndrome, D- syndrome) major heart defects,
brain or spinal cord abnormalities,
microphthalmia, microcephaly
polydactyly
cleft lip with or without a cleft palate,
hypotonia.
failure to thrive
episodes of temporary apnea.
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

61. Trisomy 18 (Edwards' syndrome
kidney malformations,
structural heart
intestines protruding outside the body (omphalocele), esophageal atresia, intellectual disability, developmental delays, growth deficiency, feeding difficulties, breathing difficulties, and arthrogryposis (microcephaly) accompanied by a prominent back portion of the head (occiput), low-set, malformed ears, abnormally small jaw (micrognathia), cleft lip/cleft palate, upturned nose, narrow eyelid folds (palpebral fissures), widely spaced eyes (ocular hypertelorism), drooping of the upper eyelids (ptosis), a short breast bone, clenched hands, choroid plexus cysts, underdeveloped thumbs and or nails, absent radius, webbing of the second and third toes, clubfoot or rocker bottom feet, and in males, undescended testicles
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

62. summary Quick 5-10 minute top to toe examination
Wide ranges of problems being looked for - most are very rare
If in doubt - ask for help
Urgent referral:
Absent red reflex
Significant naevi
Colobomas
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow

63. Any Questions?

64. Please join us in our mission
Please join us in our mission ** public education of early detection of breast cancer**
INVETATION
In collaboration of primary health care, Zahra society, and cancer program of MOH
Location: Main souq
Time: November
23/11/2014
2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow