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The following term was not found in PubMed: congenita-whistling
Page 1
Freeman-Burian syndrome.
Poling MI, Dufresne CR, Chamberlain RL. Poling MI, et al. Orphanet J Rare Dis. 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. Orphanet J Rare Dis. 2019. PMID: 30630514 Free PMC article. Review.
CLINICAL DESCRIPTION: Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped c …
CLINICAL DESCRIPTION: Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variabi …
Cerebro-oculo-facio-skeletal syndrome.
Suzumura H, Arisaka O. Suzumura H, et al. Adv Exp Med Biol. 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. Adv Exp Med Biol. 2010. PMID: 20687508 Review.
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and facial dys …
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, c …
Sheldon-Hall syndrome.
Toydemir RM, Bamshad MJ. Toydemir RM, et al. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Orphanet J Rare Dis. 2009. PMID: 19309503 Free PMC article. Review.
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. ...The diagnosis of SHS is b …
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joi …
Imaging findings in congenital Zika virus infection syndrome: an update.
de Souza AS, de Oliveira-Szjenfeld PS, de Oliveira Melo AS, de Souza LAM, Batista AGM, Tovar-Moll F. de Souza AS, et al. Childs Nerv Syst. 2018 Jan;34(1):85-93. doi: 10.1007/s00381-017-3637-1. Epub 2017 Nov 27. Childs Nerv Syst. 2018. PMID: 29181810 Review.
ZIKV is also related to other severe neurological manifestations in grown-up individuals such as Guillain-Barre syndrome and encephalomyelitis. PURPOSE: Our purpose is to review the radiological central nervous system abnormalities of congenital ZIKV infection syndrome
ZIKV is also related to other severe neurological manifestations in grown-up individuals such as Guillain-Barre syndrome and encephal …
Freeman-Sheldon syndrome. A case report and review of the literature.
Ferrari D, Bettuzzi C, Donzelli O. Ferrari D, et al. Chir Organi Mov. 2008 Sep;92(2):127-31. doi: 10.1007/s12306-008-0053-4. Epub 2008 Aug 1. Chir Organi Mov. 2008. PMID: 18677448 Review.
The Authors describe a case of Freeman-Sheldon Syndrome, a rare congenital autosomal dominant disorder (gene mapped on chromosome 11p15.5) characterized by microstomia with crinkled lips, camptodactyly with ulnar deviation of the fingers and equinus-varus-supine clubfoot. …
The Authors describe a case of Freeman-Sheldon Syndrome, a rare congenital autosomal dominant disorder (gene mapped on chromosome 11p …
Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis.
Folkmann AW, Dawson TR, Wente SR. Folkmann AW, et al. Adv Biol Regul. 2014 Jan;54:74-91. doi: 10.1016/j.jbior.2013.10.002. Epub 2013 Nov 13. Adv Biol Regul. 2014. PMID: 24275432 Free PMC article. Review.
During export, Gle1 in conjunction with inositol hexakisphosphate (IP6) spatially regulates the activity of the DEAD-box protein Dbp5 at the NPC cytoplasmic face. GLE1 mutations are causally linked to the human diseases lethal congenital contracture syndrome 1 (LCCS …
During export, Gle1 in conjunction with inositol hexakisphosphate (IP6) spatially regulates the activity of the DEAD-box protein Dbp5 at the …
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome.
Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatçi U. Derbent M, et al. Am J Med Genet A. 2004 Jul 30;128A(3):232-4. doi: 10.1002/ajmg.a.30109. Am J Med Genet A. 2004. PMID: 15216542 Review.
The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CA …
The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryp
Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature.
Verloes A, Mulliez N, Gonzales M, Laloux F, Hermanns-Lê T, Piérard GE, Koulischer L. Verloes A, et al. Am J Med Genet. 1992 Jun 1;43(3):539-47. doi: 10.1002/ajmg.1320430308. Am J Med Genet. 1992. PMID: 1605246 Review.
Restrictive dermopathy is a rare, lethal autosomal recessive syndrome. We report on 3 unrelated affected stillborn infants of consanguineous parents. Clinical findings include a tight, thin, translucent, taut skin, which tears spontaneously in flexion creases, arthrogry
Restrictive dermopathy is a rare, lethal autosomal recessive syndrome. We report on 3 unrelated affected stillborn infants of consang …
[Ross syndrome presenting with asymptomatic tonic pupils].
Okada M, Inatomi Y, Kato Y, Jikumaru M, Obayashi K, Yonehara T, Ando Y. Okada M, et al. Rinsho Shinkeigaku. 2015;55(3):160-4. doi: 10.5692/clinicalneurol.55.160. Rinsho Shinkeigaku. 2015. PMID: 25786752 Review. Japanese.
Both sides of each eye contracted in the pilocarpine eye drop test, while sweating on the face and left chest decreased. She was thus diagnosed with Ross syndrome. ...Despite treatment with intravenous immunoglobulin, the patient's deficits did not improve. T …
Both sides of each eye contracted in the pilocarpine eye drop test, while sweating on the face and left chest decreased. She was thus …
An additional case of pachygyria, joint contractures and facial abnormalities.
Levin ML, Lupski JR, Carpenter RJ Jr, Gerson LP, Greenberg F. Levin ML, et al. Clin Dysmorphol. 1993 Oct;2(4):365-8. Clin Dysmorphol. 1993. PMID: 8305968 Review.
Two previous case reports have described an apparently new lethal syndrome consisting of pachygyria, joint contractures and facial abnormalities (Winter et al., 1989; Tsukahara et al., 1990). ...These cases appear to represent a new lethal lissencephaly syndrome ass …
Two previous case reports have described an apparently new lethal syndrome consisting of pachygyria, joint contractures and facial ab …