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| 1p36_deletion_syndrome [2025/03/02 23:03] – Scott Larson | 1p36_deletion_syndrome [2025/06/14 04:27] (current) – Scott Larson |
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| ====Eye Findings==== | ====Eye Findings==== |
| * Strabismus | * Poor vision responses (visually inattentive) 44%-64% |
| * Refractive Error | * Strabismus 35%-67% |
| * Optic nerve atrophy | * Horizontal |
| * bilateral lamellar cataract | * Duane Syndrome- 2 cases |
| | * Refractive Errors |
| | * Hyperopia 41%-67% |
| | * Myopia 17%-40% |
| | * Astigmatism 23% |
| | * Nystagmus 13%-23% |
| | * Cataract |
| | * Unilateral cataract 6% |
| | * Bilateral lamellar cataract- 2 cases |
| | * Retinal "albinism" 6% |
| | * Optic nerve coloboma 3% |
| | |
| ====Other Findings==== | ====Other Findings==== |
| * {{::1p36_deletion_summary.png?|}}\\ from Reference (2):[[http://www.1p36dsa.org|1p36 Deletion Syndrome Support]] | <WRAP round box> |
| | {{::1p36_deletion_summary.jpg?|}} \\ |
| | from Reference (2):[[http://www.1p36dsa.org|1p36 Deletion Syndrome Support]] |
| | </WRAP> |
| * Microbrachycephaly | * Microbrachycephaly |
| * Distinctive facial features | * Distinctive facial features |
| * Deep-set eyes, straight eye brows, mid face hypoplasia, broad flat nose, long philtrum, pointed chin, low-set and | * Deep-set eyes, straight eye brows, mid face hypoplasia, broad flat nose, long philtrum, pointed chin, low-set and |
| * backwards rotated ears | * backwards rotated ears |
| * {{::1p36_syndome_face.png|}} \\ from Reference (1) | <WRAP round box> |
| | {{::1p36_syndome_face.jpg|}} \\ |
| | from Reference (1) |
| | </WRAP> |
| * Brachylactyly | * Brachylactyly |
| * camptodactyly | * camptodactyly |
| ====Etiology==== | ====Etiology==== |
| * Deletion of 1p36 | * Deletion of 1p36 |
| | * 1:5,000 newborns |
| | * Most common terminal deletion syndrome |
| ====Resources==== | ====Resources==== |
| | - [[https://watermark.silverchair.com/zpe00208000404.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAzwwggM4BgkqhkiG9w0BBwagggMpMIIDJQIBADCCAx4GCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMg0yPaoCfCElefJ-BAgEQgIIC70b5ginxf9NmUBl0iCUV6nwUSUjdHPEv-TsUFDXEIr4E91afMM_7JsnWetDNH6yAGN9NM6C4fOeZ4CnLTw6AoEpw6IIabdugxNasowCEEmn1nNnrwllrlxEAyktfDb3YCgtA0gPptaKZJL4qx8qdUBeTHXV1Hz-H1vUuwqmEPPSVwvFIo2a2e6Xy852UHYQBvSB45jBfze3DkhXLpFlvealbk_Y4k4zJNj6cNNZZdoDzQ9KmjUHo6-BK8AB4Wo0hntga1Q5NXP3BaSwYe8V0shl_WrNL1h-z8x-YnLQSs5Wd8kaFalorb8-Qx6lKGhRSm1vP-IfKitn8D59J6tWGPc6-PJ-sOC2-yq89_7KwtZ5ROo1YSvEBenAXY98zcG4yV-Xp-11U4mSz2oJn4UX9N3Y5couWnCSAswUkQeAIzkR8gE8j2TV26Th8Zaa6LYZ1_CDDMgTw-6eQaoP_fgIHTSI0op2gzk6uEVSsPXAIgFbQPb8A4pafaz5RznfTL8SdeEAqW4nVIzDbRu7Jn3f83w8aTeVhoNW26KZ_tEqvlP4sXOsKtWYk3-EuqBzFFD8avMj6Zh3qg2LMTGhwrFkY3_BSoxliwFVL6p7CMaaC-7clmpagEmdlJWe4pMAbjA4sLT0woWu5rMVN6lFTUoj3QsRPmgzH25ngv8iEOoVYGD31tLJFzc1pmWMhpPfh8L5GaTpqiLjojsRRWnPQGVOZID0pQIRaMyyku9f5x0nArqjIsAIS-JfBnGjsMTBzZZkqwxJKO_j4w90tUO-V8TDTHBtVmA_PPN6o7_dC1Oom7OOQ0Q1JI3RFPzqElJL1QaQPvGKtcKyun-B4mv0UanC8iyuT3V067NaHfHpyTC2P-YF1KwGB78s9tSDoFNZrTiY4HRWdyhbz8IlFPim5Yq4V1xOdxDvxptc-fEhJZJiLzfOJhppM_S2HA1LaB4ymckaXwXuUyFkc0dH77ssgiZjJUHdTIj6KUpc521Quny-6LRI |Battaglia A et al. Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation. Pediatrics 2008;121(2):404-410]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EcV2r9JolVZCn6q_8dhkMIQBtSd2jkL1rx_jPRGU-9qs2w?e=ax5QXI|-]] |
| - {{::1p36_syndome_in_60_patients_2007.pdf |Battaglia A et al. Further Delineation of Deletion 1p36 Syndrome in 60 | |
| Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation. Pediatrics 2008;121(2):404-410}} | |
| - [[http://www.1p36dsa.org|1p36 Deletion Support]] | - [[http://www.1p36dsa.org|1p36 Deletion Support]] |
| - {{::cataract_in_1p36_deletion_syndrome.pdf |Danese C et al. Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletionsyndrome. Journal of AAPOS 2021;25(6):368-370}} | - [[https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S1091853121003360?returnurl=https:%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS1091853121003360%3Fshowall%3Dtrue&referrer=|Danese C et al. Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletionsyndrome. Journal of AAPOS 2021;25(6):368-370]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EStOtmEbeAFOg3kXLgGEqaEBBOPJRQWg8I9RROoo9Hu0_Q?e=SBwAZO|-]] |
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| {{tag>syndrome}} | {{tag>syndrome}} |