Langer-Giedion Syndrome: a Rare Case Report

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...

The Langer-Giedion phenotype associated with a unique skeletal finding in a mentally retarded adolescent male. A case report.

A case of a mentally retarded male patient with associated physical abnormalities resembling the multiple exostoses-mental retardation syndrome (MEMR, Langer-Giedion or Ale-Calo syndrome) is reported. The patient represents one of the most severe examples of this condition; he also has a triphalangeal thumb with double distal phalanges, a feature not reported previously.

Langer-Giedion syndrome.

Schinzel-Giedion syndrome: a case with sacrococcygeal teratoma and cor-triatriatum dexter

Schinzel-Giedion syndrome which is associated with midfacial hypoplasia and coarse dysmorphic features is a multiple congenital malformation syndrome. It is believed that risk of malignancy may be a component of the anomaly. We report herein a case of a 16 months old boy with SGS associated with sacrococcygeal teratoma and cor-triatriatum dexter. Histopathology report of the excised sacrococcyg...

Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.

Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on B...