Table 1

Comparison of autosomal dominant conditions with ocular and skeletal anomalies

Clinical features Present cases Acroreno-ocular syndrome7 8 Macular coloboma with type B brachydactyly9 10 Oculodentodigital dysplasia11 12 Pallister-Hall syndrome13 14 Kenny-Caffey syndrome
type 215 16
Acrofacial dysostosis 1, Nager type17
Microphthalmia or coloboma2/3++++Hyperopia
Postaxial polydactyly2/3++
Delayed intramembranous ossification3/3+
Accessory nipples2/3
Talipes equinovarus1/3
Thumb and radial defects0/3++++
Distal phalangeal hypoplasia0/3+++++
Renal anomalies0/3+++
Other0/3 1-150 1-151 1-152 1-153 1-154 1-160
  • 1-150 Preaxial polydactyly.

  • 1-151 Deafness, upper extremity 4, 5 syndactyly.

  • 1-152 Preaxial polydactyly, upper extremity 4, 5 syndactyly, dental hypoplasia, spastic paraparesis, hypotelorism.

  • 1-153 Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, mental retardation.

  • 1-154 Hypocalcaemia, hypophosphataemia, short stature, macrocephaly, micro-orchidism.

  • 1-160 Distinctive facies, micrognathia.