Skip to main content
. 2016 Aug 17;24(12):1752–1760. doi: 10.1038/ejhg.2016.103

Table 1. Clinical phenotype of both brothers presenting with OFD type II, Mohr syndrome.

  Elder brother Younger brother
Oral anomalies Incomplete midline lip and alveolar cleft Incomplete midline lip and alveolar cleft
  Submucous cleft palate Submucous cleft palate
  Hyperplastic frenula Bifid tongue with hyperplastic frenula
  Tongue hamartomas Tongue hamartomas
  General dental hypoplasia: General dental hypoplasia:
  Dental agenesis of the 3.1, 4.1 Dental agenesis of the 1.2, 2.2 and 2 lower incisors (3.1 and 4.1)
  Cupular shaped upper incisors Central incisors and cuspids with talon cusps
  Taurodontia with fused/conical short roots of the molars Taurodontia with fused/conical short roots of molars
Facial anomalies Maxillary hypoplasia Protruding ears, left more pronounced than right Maxillary hypoplasia
Limb anomalies Brachydactyly, clinodactyly digiti V Brachydactyly, syndactyly of fingers
  Bifid right hallux, broad left hallux Bilateral broad hallux
  Mild mesomelic limb shortening in lower limbs Mild mesomelic limb shortening in lower limbs
Other features Progressive, mainly conductive hearing loss, right side more affected than left Mild conductive hearing loss (15–20 dB)
  Bilateral tortuosity of the retinal veins Bilateral tortuosity of the retinal veins