A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME.

Ellis-van Creveld syndrome (EVC) is a chondroectodermal dysplasia and mesoectodermal dysplasia which affects the small bones and soft tissues of the hands and feet. The chromosomal site is at 4pl6. It occurs with a prevalence rate of 1/5,000 live at birth in Amish people and 7/1,000,000 in non-Amish population (5).The most remarkable clinical feature is bilateral postaxial polydactyly of the hands (2). The diagnosis can be made on inspection of the patient short after birth. The clinical diagnosis can be supported by the radiological findings of the skeleton (3).Here we report a 7 day old female baby. She is mildly dysmorphic with atypical face, two congenitally erupted teeth in the upper jaw and left hypoplastic mandibular bone. Multiple frenulum and labiogingival frenum hypertrophy were present. Wide spaced nipples, disproportionate small stature with increasing severity from the proximal to distal portions of the limbs and shortening of the middle and distal phalanges were present (Fig. 1). The hands and feet were deformed and the existence of a sixth finger can be perceived bilaterally. She had partial syndactyly between her second and third toes. Finger and toe nails were hypoplastic. Narrow thorax and cardiac defect including atrioventricular septal defect (AVSD), patent ductus arteriosus (PDA), tricuspid incompetence and pulmonary hypertension (PHT) was present. Roentgenogram of chest revealed paralelly arranged hypoplastic ribs. On radiological examination vertebral defect including hemivertebra, scoliosis and finger defect was observed. She had also bilaterally hearing defect on ears, salt and pepper defect on her eyes. A very rare clinical finding nephrocalcinosis was available as renal abnormality on abdominal ultrasound screening. The karyotype analysis of the patient and the family members were normal. Molecular gene test was compatible with the patients clinic and in exon 12 of the EVC gene, homozygous EVC: c.[1652delc];[1652delc] mutation was detected. EVC: c.[1652delc];[ =] heterozygous mutation was observed in DNA samples of the parents.Ellis-van Creveld is transmitted as an autosomal recessive trait with variable expression. The syndrome doesn't have any gender preference but parental consanguinity was reported in 30% of cases (1). The characteristic clinical manifestations of the condition include: 1) disproportionate small stature with increasing severity from the proximal to distal portions of the limbs, and shortening of the middle and distal phalanges; 2) polydactyly affecting hands, which can be unilateral or bilateral and occasionally, the feet; 3) hidrotic ectodermal dysplasia mainly affecting the nails, hair, and teeth; 4) congenital heart malformations (1). All these features were typically observed in our patient. Fetal exposure to environmental toxins like polychlorinated biphenyls (PCB) leads to the development of premature eruption of teeth (natal teeth) however there was not maternal exposure history to any drugs (6). Only in 10% of cases of EVC, polydactyly is present in feet bilaterally and ours is one among them. Other uncommon anomalies may include urinary tract anomalies, strabismus, congenital cataracts, cryptorchidism and epi- and hypospadias (1). Nephrocalcinosis as urinary tract abnormality on abdominal ultrasound screening was also observed in our case different from the literature.EVC is associated with a very high incidence of congenital malformations of the heart. …