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letter
. 2016 Oct 13;3:16035. doi: 10.1038/hgv.2016.35

Table 1. Clinical features of the patient and her father.

Physical features Proband Father
Face
 Triangular face + +
 Naevus flameus on forehead +
 Long philtrum + +
 Small prominent chin +
 Small mandible + +
 Micrognathia +
 Attached ear lobules +
 Downslanting palpebral fissures
 Prominent nasolabial folds + +
 Broad nasal bridge
 Broad nasal root +
 Small mouth + +
 High-arched palate +
     
Neck
 Short neck +
 Mild neck webbing +
     
Skeletal
 Short stature +
 Joint contractures +
 Precocious arthrosis +
 Scoliosis
 Ulnar (wrist) deviation +
 Severe camptodactyly +
     
Hands
 Overriding fingers +
 Thumb adduction +
 Contractures of the proximal interphalangeal (PIP) joints +
 Contractures of the metacarpophalangeal joints +
 Hypoplastic or absent interphalangeal creases +
     
Feet
 Talipes equinovarus +
 Calcaneovalgus deformities +
 Vertical talus +
 Metatarsus varus
 Clubfoot +