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Page 1
Prenatal diagnosis of pericallosal lipoma: Systematic review.
Joigneau Prieto L, Ruiz Y, Pérez R, De León Luis J. Joigneau Prieto L, et al. Eur J Paediatr Neurol. 2019 Nov;23(6):764-782. doi: 10.1016/j.ejpn.2019.09.009. Epub 2019 Sep 25. Eur J Paediatr Neurol. 2019. PMID: 31587959

There was agenesis (partial or complete) of corpus callosum in 76.5% of the cases of tubulonodular lipoma and 8.3% of the cases of curvilinear lipoma (p < 0.001). There were three cases of Pai syndrome, and three cases of Goldenhar syndrome. Mean post-nata

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There was agenesis (partial or complete) of corpus callosum in 76.5% of the cases of tubulonodular lipoma and 8.3% of the cases of curviline …
Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.
Tawfik HA, Abdulhafez MH, Fouad YA. Tawfik HA, et al. Ophthalmic Plast Reconstr Surg. 2015 Jan-Feb;31(1):1-12. doi: 10.1097/IOP.0000000000000347. Ophthalmic Plast Reconstr Surg. 2015. PMID: 25419956 Free PMC article. Review.
They can present with or without corneopalpebral adhesions, may be isolated findings or a part of a larger spectrum of congenital anomalies as in the case of Fraser syndrome or Goldenhar syndrome, or could be associated with other rare curiosities that could …
They can present with or without corneopalpebral adhesions, may be isolated findings or a part of a larger spectrum of congenital anomalies …
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
Wittström E, Nordling M, Andréasson S. Wittström E, et al. Ophthalmic Genet. 2014 Jun;35(2):91-106. doi: 10.3109/13816810.2014.886265. Epub 2014 Feb 20. Ophthalmic Genet. 2014. PMID: 24555745
RESULTS: Family A, with deletion of exon 3 in the VHL gene, and family B, with the missense mutation p.R79P, exhibited type 1 VHL characterized by the absence of pheochromocytoma and a high incidence of central nervous system hemangioblastomas. One member of family B exhibited …
RESULTS: Family A, with deletion of exon 3 in the VHL gene, and family B, with the missense mutation p.R79P, exhibited type 1 VHL characteri …
A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound.
Kennelly MM, Moran P. Kennelly MM, et al. Prenat Diagn. 2007 Aug;27(8):730-7. doi: 10.1002/pd.1770. Prenat Diagn. 2007. PMID: 17533626
An antenatal diagnosis was made in 61% (11/18) - isolated limb reduction defects, Trisomy 18, TAR, fetal valproate syndrome, Roberts syndrome. Of the rest, 3 had a cordocentesis with normal chromosome fragility tests (VACTERL association, Goldenhar syndrom …
An antenatal diagnosis was made in 61% (11/18) - isolated limb reduction defects, Trisomy 18, TAR, fetal valproate syndrome, Roberts …
Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening.
Al Naimi A, Baumüller JE, Spahn S, Bahlmann F. Al Naimi A, et al. Prenat Diagn. 2013 Aug;33(8):726-31. doi: 10.1002/pd.4112. Epub 2013 Jun 3. Prenat Diagn. 2013. PMID: 23584791
Most of the cases were isolated findings, but 20.3% were associated with anomalies. One case was a Goldenhar syndrome. Of the bilateral MCDK cases, 14.3% had chromosomal defects. ...
Most of the cases were isolated findings, but 20.3% were associated with anomalies. One case was a Goldenhar syndrome. Of the …
The Nonsurgical Management of Orbital Dystopia Using Refractive Lenses and Prosthetic Shells.
Joganathan V, Terry P, Wall S, Norris JH. Joganathan V, et al. J Craniofac Surg. 2018 Sep;29(6):1648-1650. doi: 10.1097/SCS.0000000000004780. J Craniofac Surg. 2018. PMID: 30052608
One patient with a history of traumatic retinal detachment, who did not want any surgical intervention, a "plus" (hypermetropic) lens was used to magnify the perceived image of an enophthalmic and phthisical globe, to enhance appearance and improve symmetry. In the fourth patient …
One patient with a history of traumatic retinal detachment, who did not want any surgical intervention, a "plus" (hypermetropic) lens was us …
Effect of early orthopedic intervention on hemifacial microsomia patients: an approach to a cooperative evaluation of treatment results.
Kahl-Nieke B, Fischbach R. Kahl-Nieke B, et al. Am J Orthod Dentofacial Orthop. 1998 Nov;114(5):538-50. doi: 10.1016/s0889-5406(98)70174-x. Am J Orthod Dentofacial Orthop. 1998. PMID: 9810050
Five patients, one with mandibular dysostosis, one with otomandibular dysostosis, two with Goldenhar syndrome, and one with a surgically revised fibroma of the right mandible that was reconstructed by a costochondral graft, were treated by means of an activator func …
Five patients, one with mandibular dysostosis, one with otomandibular dysostosis, two with Goldenhar syndrome, and one with a …
The Goldenhar syndrome: diagnosis and early surgical management.
Heffez L, Doku HC. Heffez L, et al. Oral Surg Oral Med Oral Pathol. 1984 Jul;58(1):2-9. doi: 10.1016/0030-4220(84)90355-4. Oral Surg Oral Med Oral Pathol. 1984. PMID: 6379547
The diagnosis, classification, pathogenesis, and surgical treatment of a child with Goldenhar syndrome is reviewed. Our experience with early costochondral growth center transplantation to the temporomandibular joint and ramus is discussed....
The diagnosis, classification, pathogenesis, and surgical treatment of a child with Goldenhar syndrome is reviewed. Our experi …