He had very small hands and feet, and a voluminous inguinal hernia was present. Figure 1 - Patient 1: "Pleasant face", short limbs and small hands. Patient 2 Patient 2, born in 1990, is the sister of patient 1. [scielo.br]

• Short Stature

  At 5 years 8 months old he was referred to the genetic outpatient clinic for evaluation of short stature and dysmorphic facies. [scielo.br]

• Developmental Delay

  Mild developmental delay has also been noted in this condition (Spranger et al., 1971; Koiffman et al., 1984; Shohat et al., 1989; Rosser et al., 1995). [scielo.br]

• Short Hands

  Joint mobility was decreased, especially in the hands and elbows. He had very small hands and feet, and a voluminous inguinal hernia was present. Figure 1 - Patient 1: "Pleasant face", short limbs and small hands. [scielo.br]