Possible third case of Lin-Gettig syndrome.
We report a patient with craniosynostosis, severe mental retardation, absence of the corpus callosum, camptodactyly, hypogonadism, and ventricular septal defect. We propose that he has Lin-Gettig syndrome and that he is the third reported patient with this entity. Our patient also had additional phenotypic features, including palatal cleft and absent rapid eye movement (REM) sleep that were not present in the two previously described patients with this syndrome. High-resolution karyotype and subtelomeric fluorescence in situ hybridization (FISH) for cryptic telomeric rearrangement were normal. The existence of an unrelated patient with Lin-Gettig syndrome supports that this is a separate and distinct clinical entity.
Hedera
Peter
P
Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Innis
Jeffrey W
JW
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D003398:Craniosynostoses / Q000473:pathology*; D005124:Eye Abnormalities; D006228:Hand Deformities, Congenital / Q000473:pathology; D006345:Heart Septal Defects, Ventricular / Q000473:pathology; D006801:Humans; D007006:Hypogonadism / Q000473:pathology; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D008297:Male; D013577:Syndrome