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Page 1
Smith-Lemli-Opitz syndrome among Arabs.
Al-Owain M, Imtiaz F, Shuaib T, Edrees A, Al-Amoudi M, Sakati N, Al-Hassnan Z, Bamashmous H, Rahbeeni Z, Al-Ameer S, Faqeih E, Meyer B, Al-Hashem A, Garout W, Al-Odaib A, Rashed M, Al-Aama JY. Al-Owain M, et al. Clin Genet. 2012 Aug;82(2):165-72. doi: 10.1111/j.1399-0004.2011.01742.x. Epub 2011 Jul 18. Clin Genet. 2012. PMID: 21696385
The SLOS was confirmed in only five Arab patients with growth retardation, global developmental delay, dysmorphic features, and 2-3 toe syndactyly, among other findings. All cases represented moderate to severe form of SLOS. ...
The SLOS was confirmed in only five Arab patients with growth retardation, global developmental delay, dysmorphic features, and 2-3 toe …
Clinical and genetic approach in the characterization of newborns with anorectal malformation.
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G. Schierz IAM, et al. J Matern Fetal Neonatal Med. 2022 Dec;35(23):4513-4520. doi: 10.1080/14767058.2020.1854213. Epub 2020 Dec 1. J Matern Fetal Neonatal Med. 2022. PMID: 36062518
Thus, we attributed the Xq28 deletion with inactivated FAM58A gene in one girl to the X-linked dominant STAR syndrome (toe syndactyly-telecanthus-anogenital/renal malformations). CONCLUSIONS: Despite the great physical and social burden on ARM patients and their par …
Thus, we attributed the Xq28 deletion with inactivated FAM58A gene in one girl to the X-linked dominant STAR syndrome (toe syndact …
A Simple Alternative Treatment for Syndactyly of the Toe.
Nash WJ, Walker R, Patel RS, Singh S. Nash WJ, et al. J Foot Ankle Surg. 2016 Sep-Oct;55(5):1024-6. doi: 10.1053/j.jfas.2015.06.008. Epub 2015 Aug 8. J Foot Ankle Surg. 2016. PMID: 26261069
Toe syndactyly is a common congenital malformation affecting approximately 1 in 2000 people and can cause significant emotional and psychological distress for the patient. ...To the best of our knowledge, this is the first reported case using this technique, which w …
Toe syndactyly is a common congenital malformation affecting approximately 1 in 2000 people and can cause significant emotiona …
Lily's Story: STAR Syndrome.
Blackburn C. Blackburn C. Adv Neonatal Care. 2015 Aug;15(4):269-73. doi: 10.1097/ANC.0000000000000207. Adv Neonatal Care. 2015. PMID: 26225595
Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report.
Pecimonova M, Radvanszky J, Smolak D, Budis J, Lichvar M, Kristinova D, Rozova I, Turna J, Szemes T. Pecimonova M, et al. Medicine (Baltimore). 2021 Jun 4;100(22):e26136. doi: 10.1097/MD.0000000000026136. Medicine (Baltimore). 2021. PMID: 34087865 Free PMC article.
PATIENT CONCERNS: We report the case of a polystigmatized 2-year-old boy having significant symptomatologic overlap with PVNH7, such as delayed psychomotor and mental development, seizures and infantile spasms, periventricular nodular heterotopia, polymicrogyria, cleft palate, 2 …
PATIENT CONCERNS: We report the case of a polystigmatized 2-year-old boy having significant symptomatologic overlap with PVNH7, such as dela …
Gastrointestinal manifestations in diploid/triploid mixoploidy.
Lalani FK, Elsner GL, Lebel RR, Beg MB. Lalani FK, et al. J Pediatr Gastroenterol Nutr. 2015 Jun;60(6):799-801. doi: 10.1097/MPG.0000000000000622. J Pediatr Gastroenterol Nutr. 2015. PMID: 25373857
Other phenotypic features include low-set ears, piebald irides and scalp hair, eyelid ptosis, strabismus, broad nasal bridge, anteverted nares, upswept eyebrows, hypoplastic teeth, pectus excavatum, hypoplastic labia, scoliosis, 3-4 finger syndactyly, and 2-3 toe syndac …
Other phenotypic features include low-set ears, piebald irides and scalp hair, eyelid ptosis, strabismus, broad nasal bridge, anteverted nar …
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
Weaver DD, Solomon BD, Akin-Samson K, Kelley RI, Muenke M. Weaver DD, et al. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):142-5. doi: 10.1002/ajmg.c.30241. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104611 Free PMC article. Review.
Following birth, we suspected SLOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2-3 toe syndactyly. The diagnosis of SLOS was confirmed by finding an elevated amniotic fluid 7-dehydrocholesterol level (9,890 ng/ml; normal range = …
Following birth, we suspected SLOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2-3 toe synda …
19q13.32 microdeletion syndrome: three new cases.
Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM Jr. Castillo A, et al. Eur J Med Genet. 2014 Nov-Dec;57(11-12):654-8. doi: 10.1016/j.ejmg.2014.08.009. Epub 2014 Sep 16. Eur J Med Genet. 2014. PMID: 25230004
Patient 1 was hypotonic and dysmorphic at birth, with aplasia of the posterior corpus callosum, bilateral ptosis, oculomotor paralysis, down-slanting palpebral fissures, facial asymmetry, submucosal cleft palate, micrognathia, wide-spaced nipples, right-sided aortic arch, hypospa …
Patient 1 was hypotonic and dysmorphic at birth, with aplasia of the posterior corpus callosum, bilateral ptosis, oculomotor paralysis, down …
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.
Orge FH, Dar SA, Blackburn CN, Grimes-Hodges SJ, Mitchell AL. Orge FH, et al. Ophthalmic Genet. 2016 Sep;37(3):323-7. doi: 10.3109/13816810.2015.1071407. Epub 2016 Feb 16. Ophthalmic Genet. 2016. PMID: 26882209
PURPOSE: To report the newest ophthalmic manifestations of a mother-daughter pair diagnosed with toe syndactyly, telecanthus, anogenital and renal malformations (STAR) syndrome, a rare X-linked developmental disorder. ...The daughter, born at 38 weeks after a compli …
PURPOSE: To report the newest ophthalmic manifestations of a mother-daughter pair diagnosed with toe syndactyly, telecanthus, …
35 results