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Article

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.

American journal of medical genetics. Part A - 15 Mar 2008

Mitter Diana, Krakow Deborah, Farrington-Rock Claire, Meinecke Peter

Abstract excerpt

We report on a 5-year-old boy with spondylocarpotarsal synostosis (SCT) syndrome who presents with disproportionate short stature, thoracic scoliosis, pes planus, dental enamel hypoplasia, unilateral conductive hearing loss and mild facial dysmorphisms. Radiographs showed abnormal segmentation of the spine with block vertebrae and carpal synostosis. In addition to the typical phenotype of SCT syndrome, he showed...

Topics

Adult
Bone and Bones
Child
Contractile Proteins
Fathers
Filamins
Growth Disorders
Heterozygote
Humans
Inheritance Patterns
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microfilament Proteins

Phenotype

Spine

Syndrome

Synostosis

Source

Identifiers

PMID: 18257094
DOI: 10.1002/ajmg.a.32230

Genes

SCT
FLNB

Provenance

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