Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.

Langer-Giedion Syndrome: a Rare Case Report

Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features. The characteristic appearance of individuals includes sparse scalp hair, rounded nose, prominent philtral area and thin upper lip. Some cases with this condit...

Familial mental retardation associated with balanced chromosome rearrangement rcp t(8;11)(q24.3;p15.1).

We report three sisters and their father with a reciprocal balanced translocation, rcp t(8;11)(q24.3;p15.1) and the same abnormal phenotypes, including mental retardation, growth disturbance, and amblyopia. It is considered that the abnormal phenotypes in our four cases might result from a tiny deletion or gene mutation at the breakpoints in 8q or 11p or both. Our cases showed no resemblance, a...

Langer-Giedion syndrome.

A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.

We report on an 11 year old girl with trichorhinophalangeal syndrome type I (TRPS1), postaxial polydactyly of the fingers, and a de novo paracentric inversion on the long arm of chromosome 8 involving bands q13.1 and q24.11. Molecular analysis using FISH and polymorphic DNA markers detected an approximately 4 Mb, cytogenetically unidentified deletion occurring between two STSs markers, AFMB331Y...

Traumatic bone cyst of the mandible in Langer-Giedion syndrome: a case report

INTRODUCTION Langer-Giedion syndrome (trichorhinophalangeal syndrome type II) is an extremely rare disorder characterized by dysmorphic facial features, multiple exostoses, mental retardation and digit deformities. We report the first case of any maxillofacial pathology in such a syndromic patient. CASE PRESENTATION A 22-year-old Indian woman with mild intellectual disability presented with m...