Article
Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome?
American journal of medical genetics - 15 Nov 1992
Chitayat D, Stalker H J, Azouz E M
Abstract excerpt
We report on a son and daughter of Ashkenazi-Jewish parents with postaxial polydactyly of the hands and feet associated with syndactyly and brachydactyly, mental retardation, cerebellar hypoplasia, pectus excavatum, mesomelic shortness of the upper and lower limbs, and pretibial dimples. Although this appears to be an example of one of the OFD syndromes and has many similarities to OFD type II, III, IV and VI, it...
Topics
- Adolescent
- Brain
- Diagnosis, Differential
- Extremities
- Female
- Humans
- Infant, Newborn
- Male
- Orofaciodigital Syndromes
- Phenotype
- Tomography, X-Ray Computed