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Craniofacial anomaly with cataract

MedGen UID:
1842789
•Concept ID:
C5681662
•
Congenital Abnormality
Orphanet: ORPHA98650

Professional guidelines

PubMed

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, Pasquier L
Eur J Med Genet 2009 Jan-Feb;52(1):41-6. Epub 2008 Oct 31 doi: 10.1016/j.ejmg.2008.10.002. PMID: 19022413
Differential diagnosis on the basis of physical findings.
Hanshaw JB, Dudgeon JA
Major Probl Clin Pediatr 1978;17:278-300. PMID: 340801

Recent clinical studies

Etiology

Ocular manifestations in Gorlin-Goltz syndrome.
Moramarco A, Himmelblau E, Miraglia E, Mallone F, Roberti V, Franzone F, Iacovino C, Giustini S, Lambiase A
Orphanet J Rare Dis 2019 Sep 18;14(1):218. doi: 10.1186/s13023-019-1190-6. PMID: 31533758Free PMC Article
Zika and the Eye: Pieces of a Puzzle.
de Oliveira Dias JR, Ventura CV, de Paula Freitas B, Prazeres J, Ventura LO, Bravo-Filho V, Aleman T, Ko AI, Zin A, Belfort R Jr, Maia M; Zika Virus Study Group
Prog Retin Eye Res 2018 Sep;66:85-106. Epub 2018 Apr 24 doi: 10.1016/j.preteyeres.2018.04.004. PMID: 29698814
Ocular findings in Loeys-Dietz syndrome.
Busch C, Voitl R, Goergen B, Zemojtel T, Gehle P, Salchow DJ
Br J Ophthalmol 2018 Aug;102(8):1036-1040. Epub 2017 Nov 16 doi: 10.1136/bjophthalmol-2017-311254. PMID: 29146755
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. Epub 2014 May 16 doi: 10.1002/ajmg.c.31400. PMID: 24839169
Hallermann-Streiff syndrome: a review.
Cohen MM Jr
Am J Med Genet 1991 Dec 15;41(4):488-99. doi: 10.1002/ajmg.1320410423. PMID: 1776643

Diagnosis

Ocular manifestations in Gorlin-Goltz syndrome.
Moramarco A, Himmelblau E, Miraglia E, Mallone F, Roberti V, Franzone F, Iacovino C, Giustini S, Lambiase A
Orphanet J Rare Dis 2019 Sep 18;14(1):218. doi: 10.1186/s13023-019-1190-6. PMID: 31533758Free PMC Article
Glaucoma With Crouzon Syndrome.
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Ocular findings in Loeys-Dietz syndrome.
Busch C, Voitl R, Goergen B, Zemojtel T, Gehle P, Salchow DJ
Br J Ophthalmol 2018 Aug;102(8):1036-1040. Epub 2017 Nov 16 doi: 10.1136/bjophthalmol-2017-311254. PMID: 29146755
Secondary congenital aphakia.
Ionescu C, Dascalescu D, Cristea M, Schmitzer S, Cioboata M, Iancu R, Corbu C
Rom J Ophthalmol 2016 Jan-Mar;60(1):37-9. PMID: 27220231Free PMC Article
Congenital cataract and multisystem disorders.
Cassidy L, Taylor D
Eye (Lond) 1999 Jun;13 ( Pt 3b):464-73. doi: 10.1038/eye.1999.123. PMID: 10627826

Therapy

The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study.
Schrager NL, Parker SE, Werler MM; for the National Birth Defects Prevention Study
Birth Defects Res 2023 Feb 1;115(3):275-289. Epub 2022 Sep 27 doi: 10.1002/bdr2.2096. PMID: 36168701
Unusual case of double anterior segment with two lenses and double cataract in a 6-month child.
Ohara de Oliveira Junior E, Fernandes AG, Nakanami CR, Nakayama SA, Sallum JMF, Allemann N, Brant Fernandes RA
Eur J Ophthalmol 2023 May;33(3):NP75-NP77. Epub 2022 Mar 31 doi: 10.1177/11206721221091377. PMID: 35360954
Eltrombopag Therapy in Children With Rare Disorders Associated With Thrombocytopenia.
Frączkiewicz J, Sęga-Pondel D, Kazanowska B, Ussowicz M
J Pediatr Hematol Oncol 2020 Mar;42(2):113-117. doi: 10.1097/MPH.0000000000001528. PMID: 31205222
Glaucoma With Crouzon Syndrome.
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Hallermann-Streiff syndrome: a review.
Cohen MM Jr
Am J Med Genet 1991 Dec 15;41(4):488-99. doi: 10.1002/ajmg.1320410423. PMID: 1776643

Prognosis

Ocular manifestations in Gorlin-Goltz syndrome.
Moramarco A, Himmelblau E, Miraglia E, Mallone F, Roberti V, Franzone F, Iacovino C, Giustini S, Lambiase A
Orphanet J Rare Dis 2019 Sep 18;14(1):218. doi: 10.1186/s13023-019-1190-6. PMID: 31533758Free PMC Article
Warburg Micro syndrome.
Dursun F, Güven A, Morris-Rosendahl D
J Pediatr Endocrinol Metab 2012;25(3-4):379-82. doi: 10.1515/jpem-2011-0459. PMID: 22768674
Neurological findings in incontinentia pigmenti; a review.
Meuwissen ME, Mancini GM
Eur J Med Genet 2012 May;55(5):323-31. Epub 2012 May 4 doi: 10.1016/j.ejmg.2012.04.007. PMID: 22564885
Congenital cataract and multisystem disorders.
Cassidy L, Taylor D
Eye (Lond) 1999 Jun;13 ( Pt 3b):464-73. doi: 10.1038/eye.1999.123. PMID: 10627826
Hallerman-Streiff syndrome.
Nicholson AD, Menon S
J Postgrad Med 1995 Jan-Mar;41(1):22-3. PMID: 10740699

Clinical prediction guides

The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study.
Schrager NL, Parker SE, Werler MM; for the National Birth Defects Prevention Study
Birth Defects Res 2023 Feb 1;115(3):275-289. Epub 2022 Sep 27 doi: 10.1002/bdr2.2096. PMID: 36168701
Audiologic Manifestations of Marshall Syndrome.
Bacciu A, Di Lella F, Iaccarino I, Pasanisi E, Fava G, Vincenti V, Falcioni M
Otol Neurotol 2018 Sep;39(8):e691-e698. doi: 10.1097/MAO.0000000000001896. PMID: 30020262
Glaucoma With Crouzon Syndrome.
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Secondary congenital aphakia.
Ionescu C, Dascalescu D, Cristea M, Schmitzer S, Cioboata M, Iancu R, Corbu C
Rom J Ophthalmol 2016 Jan-Mar;60(1):37-9. PMID: 27220231Free PMC Article
Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.
García-Castillo H, Vásquez-Velásquez AI, Rivera H, Barros-Núñez P
Am J Med Genet A 2008 Jul 1;146A(13):1687-95. doi: 10.1002/ajmg.a.32315. PMID: 18548531

Recent systematic reviews

Hallermann Streiff syndrome: Cranio-facial manifestations systematic review and report of two cases.
Preudhomme R, Veyssiere A, Ambroise B, Benateau H
J Stomatol Oral Maxillofac Surg 2022 Sep;123(4):e219-e223. Epub 2021 Nov 17 doi: 10.1016/j.jormas.2021.11.002. PMID: 34800747
Impacts of High Environmental Temperatures on Congenital Anomalies: A Systematic Review.
Haghighi MM, Wright CY, Ayer J, Urban MF, Pham MD, Boeckmann M, Areal A, Wernecke B, Swift CP, Robinson M, Hetem RS, Chersich MF, Climate Change And Heat-Health Study Group
Int J Environ Res Public Health 2021 May 5;18(9) doi: 10.3390/ijerph18094910. PMID: 34063033Free PMC Article
Neurological Complications of Congenital Zika Virus Infection.
Marques VM, Santos CS, Santiago IG, Marques SM, Nunes Brasil MDG, Lima TT, Costa PS
Pediatr Neurol 2019 Feb;91:3-10. Epub 2018 Nov 22 doi: 10.1016/j.pediatrneurol.2018.11.003. PMID: 30591235

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