[Apert's syndrome: a case report].

Abstract

Apert's syndrome is a type of acrocephalosyndactylia that is from part of the great group of craniofacial synostoses. It is characterized by craniofacial dysmorphia and syndactylia on hands and feet, which differentiates it from Crouzon's disease. It is a rare affection that is often transmitted through an autosome dominant mode, but sporadic cases exist. We report the case of a 15-year-old girl who presented characteristic clinical signs of Apert's syndrome with normal karyotype without parental consanguinity. The Ser 252 Trp mutation of the FGFR2 gene was found, confirming the molecular diagnosis. This study illustrates the severity of ocular and neurological problems of untreated Apert's syndrome. The presence of hemoglobinopathy (Hb AS) is also a mark of its originality.

• Authors: C Doutetien, A Laleye, S Tchabi, O Biaou, R Lawani, J Deguenon, R Darboux, D Gnamey, S K Bassabi
• Journal: Journal francais d'ophtalmologie (J Fr Ophtalmol) Vol. 26 Issue 7 Pg. 738-42 (Sep 2003) ISSN: 0181-5512 [Print] France
• Vernacular Title: Le syndrome d'Apert: à propos d'une observation.
• PMID: 13130264 (Publication Type: English Abstract, Journal Article)

Chemical References

• Hemoglobin, Sickle
• Receptors, Fibroblast Growth Factor
• hemoglobin AS
• FGFR2 protein, human
• Receptor Protein-Tyrosine Kinases
• Receptor, Fibroblast Growth Factor, Type 2

Topics

• Acrocephalosyndactylia (complications, diagnosis, genetics)
• Adolescent
• Amino Acid Substitution
• Ectropion (genetics)
• Exophthalmos (genetics)
• Female
• Hemoglobin, Sickle
• Humans
• Mutation, Missense
• Point Mutation
• Psychomotor Disorders (genetics)
• Receptor Protein-Tyrosine Kinases (genetics)
• Receptor, Fibroblast Growth Factor, Type 2
• Receptors, Fibroblast Growth Factor (genetics)
• Sickle Cell Trait (complications)