We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daughter had almost identical congenital malformations, short stature, and unusual facies. The proband was born with anal stenosis, a rectovaginal fistu...

A 5-year-old boy and his father with Pfeiffer syndrome are described. They had acrocephaly, hypertelorism, antimongoloid slant of the palpebral fissures, protrusion of the eyes, large and broad nose, small mandible, irregularly placed teeth, additional upper canine, high-arched palate, partial syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular gr...

Abstract Timothy Syndrome is a rare autosomal dominant multisystem genetic condition. The CACNA1C gene, codifier of the CaV1.2 calcium channel, affected, resulting in loss voltage-dependent channel inactivation. Relevant clinical characteristics: (1) corrected QT interval greater than 480ms; (2) syndactyly. Death often occurs during childhood, and results from ventricular tachyarrhythmias. This...

O culodentodigital syndrome (ODD; OMIM 164200) is a congenital disorder characterised by developmental abnormalities of the face, eyes, limbs, and dentition. ODD is inherited in an autosomal dominant fashion and displays high penetrance but variable expression. In addition, a high rate of de novo mutations is observed. Facially, affected patients exhibit a long, narrow nose with hypoplastic ala...

EDITOR—Fig 1 in the paper by Beales et al shows portraits of six patients with the Bardet-Biedl syndrome (BBS). Number 4, the lower left picture, has the facial appearance of the Cohen syndrome (CS) with apparent microcephaly, thick hair, coarse eyebrows, short philtrum, and prominent incisors. Since she is presented as a case of the BBS, she should have a rod-cone retinal dystrophy and other s...