LETTER TO JMG

Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36

H Thiele^1,2, C McCann⁴, S van’t Padje¹, G C Schwabe^1,3, H C Hennies², G Camera⁵, J Opitz⁷, R Laxova⁶, S Mundlos^1,3, P Nürnberg^1,2

¹ Institute for Medical Genetics, Charité University Hospital, Humboldt-University, Berlin, Germany
² Gene Mapping Centre, Max Delbrueck Centre for Molecular Medicine, Berlin-Buch, Germany
³ Max Planck Institute for Molecular Genetics, Ihnestr. 73, 14195, Berlin, Germany
⁴ Providence Alaska Medical Genetics Center, Anchorage, USA
⁵ Servicio di Genetica e Dismorfologia, Ospedali Galliera, Genoa, Italy
⁶ Clinical Genetics Center, University of Wisconsin-Madison, USA
⁷ Pediatrics (Medical Genetics), Human Genetics, Obstetrics & Gynecology, Pathology, University of Utah, Salt Lake City, Utah, USA

Correspondence to:
Correspondence to:
Stefan Mundlos
Institute for Medical Genetics, Charité University Hospital, Augustenburger Platz 1, D-13353 Berlin, Germany; stefan.mundlos@charite.de

Received 23 September 2003
Revised version received 6 November 2003

Accepted 14 November 2003

Abbreviations: Dbf, mouse mutant doublefoot; PPD, preaxial polydactyly; SD1, syndactyly type 1; SHH, sonic hedgehog gene; Ssq, mouse mutant Sasquatch; TPT, triphalangeal thumb-polydactyly syndrome

The first 150 words of the full text of this article appear below.

The F form of acropectorovertebral dysgenesis, also called F syndrome, is a rare dominantly inherited fully penetrant skeletal disorder.¹ The name of the syndrome is derived from the first letter of the surname of the family in which it was originally described. Major anomalies include carpal synostoses, malformation of first and second fingers with frequent syndactyly between these digits, hypoplasia and dysgenesis of metatarsal bones with invariable synostosis of the proximal portions of the fourth and fifth metatarsals, variable degrees of duplication of distal portions of preaxial toes, extensive webbing between adjacent toes, prominence of the sternum with variable pectus excavatum and spina bifida occulta of L3 or S1. Affected individuals also have minor craniofacial anomalies and moderate impairment of performance on psychometric tests.³

Two families have been reported to date. The condition was first described by Grosse¹ in eight members of a four generation American family of European origin. . . . [Full text of this article]

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