Tel-Hashomer camptodactyly syndrome in a 10 year-old boy
Tel-Hashomer camptodactyly syndrome (THCS) is a rare, autosomal recessively inherited, connective tissue disorder. Only 18 cases have so far been described. We present a 10 year-old male patient with THCS. His parents, younger sister and brother are healthy. The family is of Bosnian origin, consanguinity was denied. The proband was born at term weighing 2400g and measuring 46cm in length. Postnatal growth was mildly delayed. Muscular hypotonia prompted physical therapy. At a chronicle age of 7 ½ years, his bone age corresponded to 3-4 years.
At clinical examination, we found a pattern of crani-facial dysmorphic features including brachycephaly, prominent forehead, hypertelorism, microstomia and high-arched palate. In addition, he had a remarkable thoraco-lumbar kyphoscoliosis, lumbar lordosis and slight pectus excavatum. Echocardiographic evaluation disclosed a bifid aortic valve and dilated sinus Valsalvae. Limb anomalies included atypical palmar creases, abnormal dermatoglyphics, tapering fingers and a membranous syndactyly of the digits III/IV. Thenars were hypoplastic, active flexion of thumbs was impossible. The distal interphalangeal joints of fingers were in a stiff, mildly flexed position and showed absent or hypoplastic flexion creases. The finger and hand joints as well as the large joints were hyperflexible, and there were bilateral cubitus valgus, genu valgum and flat foot.
His intelligence appeared to be within normal limits. However, he entered school one year late, together with his healthy sister, who achieved better. Our proband presently, since 6 months, attends a logopedic school because he speaks in short sentences only, which was interpreted as speech delay.
Our patient represents the first case of THCS diagnosed in Switzerland. In addition to the pattern characteristic for THCS, he revealed hitherto not reported findings, namely delayed bone age and a bifid aortic valve with dilated sinus Valsalvae.