Fine-Lubinsky syndrome: Sibling pair suggests possible autosomal recessive inheritance

Ashley M. Holder, Brett H. Graham, Brendan Lee, Daryl A. Scott

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

In 1983, Fine and Lubinsky reported a single patient with craniofacial anomalies, hearing loss, cataracts, microstomia, CNS anomalies, and developmental delay. Since that time, three additional patients with similar findings have been described. In each case the patients was the only affected child in his or her family. Here we describe the first brother and sister sibling pair with features suggestive of Fine-Lubinsky syndrome. Features present in one or both of our patients, and the majority of previously described individuals with Fine-Lubinsky syndrome, include: craniosynostosis/abnormal calvaria, prominent frontal bones, flat facial profiles, small noses, microstomia, hearing loss, developmental delay/mental retardation, and abnormal digits. Unusual anomalies present in our patients include marked brachydactyly of fingers and toes, camptodactyly most severely affecting the second fingers, and permanence of decidual teeth. The identification of a sibling pair with Fine-Lubinsky suggests a possible autosomal recessive inheritance pattern. It is important that parents of children with Fine-Lubinsky be informed of the increased recurrence risk associated with that type of inheritance.

Original languageEnglish (US)
Pages (from-to)2576-2580
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number21
DOIs
StatePublished - Nov 1 2007

Keywords

  • Autosomal recessive
  • Brachydactyly
  • CNS anomalies
  • Cataracts
  • Craniosynostosis
  • Developmental delay
  • Fine-Lubinsky
  • Hearing loss
  • Mental retardation
  • Microstomia
  • Seizures

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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