Associated acral and renal malformations: a new syndrome?

TLDR: A 7-year-old male with associated anomalies of the limbs and urinary tract, very similar to three previously reported patients, is described, and a new syndromic (acro-renal) relationship of unknown etiology has been established.

Abstract: A 7-year-old male with associated anomalies of the limbs and urinary tract, very similar to three previously reported patients, is described. Acral malformations noted in the four patients have been oligodactyly, ectrodactyly, brachydactyly, and polydactyly in varying but characteristic combination. A pattern of distribution of the limb defects has been evident. The limb anomalies in the present case are a composite of those described in the previously reported patients. Urinary tract abnormalities include unilateral renal agenesis and duplication of the collecting system. Minor anomalies present in two or more patients were arched palate, sternal deformity, hypoplastic auricular helices, widely spaced teeth, coxa valga, cinodactyly of the fifth finger, hypospadias, cryptorchidism, antimongoloid slanting of palpebral fissures. Findings not previously reported were Brushfield9s spots, vertically grooved nasal tip, deficient pectoralis major muscle, hypoplastic twelfth ribs, spina bifida occulta of L5. All patients have been phenotypic males, with increased paternal reproductive age in three. The authors suggest that a new syndromic (acro-renal) relationship of unknown etiology has been established.