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PEDIATRICS SYNDROMES WITH EYE MANIFESTATIONS DR. Maisa Mohammed Alsweilem Consultant Ophthalmology MD, FRCS, ABO, KKESH fellow Medical Director PABMH.

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Presentation on theme: "PEDIATRICS SYNDROMES WITH EYE MANIFESTATIONS DR. Maisa Mohammed Alsweilem Consultant Ophthalmology MD, FRCS, ABO, KKESH fellow Medical Director PABMH."— Presentation transcript:

1 PEDIATRICS SYNDROMES WITH EYE MANIFESTATIONS DR. Maisa Mohammed Alsweilem Consultant Ophthalmology MD, FRCS, ABO, KKESH fellow Medical Director PABMH

2 NORMAL INFANT EXAMINATION RED FLAGS SYNDROMES WITH EYE MANIFESTATIONS TAKE HOME MASSAGES Contents 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2

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 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow3

4 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow4 Eyelid EdemaDysconjugate Eye Movements Congenital Glaucoma Congenital Cataracts

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

6 Infant Eye Examination ◦ Retinal or Subconjunctival Hemorrhages ◦ Common after vaginal delivery ◦ Clears spontaneously in 1-2 weeks 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow6

7 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) ◦ 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 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow9

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1023/11/2014

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1123/11/2014

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 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow12

13 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow13

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1423/11/2014

15 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1523/11/2014

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. 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1623/11/2014

17 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow17

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1823/11/2014

19 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow19

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2023/11/2014

21 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow21

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2223/11/2014

23 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow23

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2423/11/2014

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2523/11/2014

26 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow26

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%) 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2723/11/2014

28 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow28

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% 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2923/11/2014

30 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow30

31 23/11/ peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow31

32 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow32

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow3323/11/2014

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow3423/11/2014

35 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow35

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow3623/11/2014

37 Velocardiofacial Syndrome (Shprintzen Syndrome) Figure Velocardiofacial syndrome. Broad nose, triangular face, palatal incompetence. 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow3723/11/2014

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow3823/11/2014

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. 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow3923/11/2014

40 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow40

41 Neurofibromatosis 1 (Von Reklinghausen Disease) ◦ Diagnostic criteria includes 2 or more of the following: 1.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 2.Two or more neurofibromas of any type or 1 plexiform neurofibroma 3.Multiple freckles (Crowe sign) in the axillary or inguinal region 4.A distinctive osseous lesion, such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis 5.Optic glioma 6.Two or more iris hamartomas (Lisch nodules) seen on slitlamp or biomicroscopy examination 7.A first-degree relative (parent, sibling, offspring) with same disease, as diagnosed by using the above criteria. 8.Mental retardation, learning disabilities, and speech defects are not uncommon 9.Autosomal dominant. NF1 gene location is in the 17q11.2 region. Fresh mutations represent about 50% of cases 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow4123/11/2014

42 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow42

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: 1.Bilateral acoustic neuroma seen with CT or MRI or 2.A first-degree relative with the disease and either unilateral 8th nerve mass, or two of the following: 1.neurofibroma 2.meningioma 3.glioma 4.schwannoma 5.juvenile posterior subcapsular lenticular opacity 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow4323/11/2014

44 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow44

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow4523/11/2014

46 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow46

47 Pfeiffer’s syndrome ◦ Similar to Apert Syndrome but have digital broadening rather than syndactyly ◦ Eyes: down-slanting palpebrael fissures, Hypertelorism, Exophthalmos ◦ 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow47

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. 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow48

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. 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow4923/11/2014

50 Mobius Syndrome (Congenital Facial Diplegia) 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow5023/11/2014

51 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. 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow51

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow5223/11/2014

53 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow53

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 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow5423/11/2014

55 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow55

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 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow56

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 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow57

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.the X chromosome ◦ strabismus ◦ ptosis, hypertelorism, epicanthus, and antimongoloid slants. Red-green color deficiency. 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow58

59 ◦ Ring-D chromosome: 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 syndromeMonosomy-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 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow59

60 ◦ Trisomy 13 (Patau's syndrome, D- syndrome) Trisomy 13Patau's syndromeD- 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. 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow60

61 Trisomy 18Trisomy 18 (Edwards' syndromeEdwards' syndrome 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow61 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 testiclesomphaloceleesophageal atresiaintellectual disabilityfeeding difficultiesbreathing difficultiesarthrogryposismicrocephalyocciputmicrognathiacleft lipcleft palatepalpebral fissuresocular hypertelorismptosisabsent radiuswebbingclubfootrocker bottom feetundescended testicles

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 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow62

63 Any Questions?

64 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow64 INVETATION In collaboration of primary health care, Zahra society, and cancer program of MOH Location: Main souq Time: November Please join us in our mission ** public education of early detection of breast cancer**


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