Cenani–Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report

Abstract

Clinical summary and investigations A female child with Cenani–Lenz syndactyly (CLS) is described. The proband showed bilateral malformations of the hands and feet. The patient also had a prominent forehead, deep-set eyes, low-set ears, retrognathia, higharched narrow palate, a short-beaked nose, and high nasal bridge, (Fig. 1). The hands showed a complex syndactyly and disorganization of the fingers, which could not be identified individually (Figs 2, 3). The feet showed partial disorganization of the toes and partial syndactyly (Fig. 4). The karyotype was 46, XX. The proband had normal developmental milestones and cognitive abilities. Laryngomalacia was diagnosed in infancy. Although there were no clinical criteria of hypothyroidism, thyroid functions testing at 8 months of age showed a higher than normal thyroid-stimulating hormone level of 6.2, and a repeat at 9 months of 7.89 mU/l (N = 0.47–5.01), T4 of 12.55 pmol/l (N = 9.1–23.6), and T3 of 4.36 pmol/l (N = 2.58–5.44). Taking her young age into consideration, no further investigations were carried out at the endocrine clinic; she was diagnosed as having primary hypothyroidism and started on thyroxin with regular follow-up. Abdominal ultrasonography showed that the right kidney was hypoplastic and ectopic. Radiography of pelvis showed bilateral coxa valga and dysgenesis of the hip joints. The right hand showed fusion of all metacarpal bones into one mass, with broad, fused, disorganized phalanges and reduction of digital rays. The phalanges of the dorsiflexed little finger were seen overlying the phalanges of the adjacent fused digit. The left hand showed three separate metacarpals with fusion and disorganization of the phalanges and reduction of the digital rays (Fig. 5). Fig. 1