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• W2146238693 abstract "While common syndromic synostoses such as Apert, Crouzon, or Pfieffer syndromes, are well-described, Fine-Lubinsky syndrome remains relatively unknown and rarely reported. In 1983, Drs. Fine and Lubinsky described a single patient with craniofacial anomalies, hearing loss, cataracts, microstomia, and developmental delay. 1 Fine B.A. Lubinsky M. Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations. J Clin Dysmorphol. 1983; 1: 6 PubMed Google Scholar Since that time, six patients with similar findings have been described. 2 Preus M. Cooper A.R. O'Leary E. Sensorineural hearing loss, small facial features, submucous cleft palate, and myoclonic seizures. J Clin Dysmorphol. 1984; 2: 30 PubMed Google Scholar , 3 Suthers G.K. Earley A.E. Huson S.M. A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation. Clin Dysmorphol. 1993; 2: 342 Crossref PubMed Scopus (11) Google Scholar , 4 Aymé S. Philip N. Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. Clin Dysmorphol. 1996; 5: 55 Crossref PubMed Scopus (15) Google Scholar , 5 Holder A.M. Graham B.H. Lee B. et al. Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. Am J Med Genet Part A. 2007; 143A: 2576 Crossref PubMed Scopus (3) Google Scholar , 6 Schoner K. Bald R. Fritz B. et al. Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios. Fetal Diagn Ther. 2008; 23: 228 Crossref PubMed Scopus (6) Google Scholar Features recognized as those of Fine-Lubinsky syndrome include craniosynostosis, prominent frontal bones, flat facial profiles, small noses, microstomia, hearing loss, developmental delay, and abnormal digits. 1 Fine B.A. Lubinsky M. Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations. J Clin Dysmorphol. 1983; 1: 6 PubMed Google Scholar , 2 Preus M. Cooper A.R. O'Leary E. Sensorineural hearing loss, small facial features, submucous cleft palate, and myoclonic seizures. J Clin Dysmorphol. 1984; 2: 30 PubMed Google Scholar , 3 Suthers G.K. Earley A.E. Huson S.M. A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation. Clin Dysmorphol. 1993; 2: 342 Crossref PubMed Scopus (11) Google Scholar , 4 Aymé S. Philip N. Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. Clin Dysmorphol. 1996; 5: 55 Crossref PubMed Scopus (15) Google Scholar , 5 Holder A.M. Graham B.H. Lee B. et al. Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. Am J Med Genet Part A. 2007; 143A: 2576 Crossref PubMed Scopus (3) Google Scholar , 6 Schoner K. Bald R. Fritz B. et al. Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios. Fetal Diagn Ther. 2008; 23: 228 Crossref PubMed Scopus (6) Google Scholar Here, the sixth case of Fine-Lubinsky syndrome is described." @default.
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• W2146238693 date "2010-01-01" @default.
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• W2146238693 title "Fine-Lubinsky syndrome: Managing the rare syndromic synostosis" @default.
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